CHROMOSOME 11 DRD4 11p15.5 GENE VIEW DRD4 · 11p15.5 11p16 11p14 rs587776842 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs587776842 C / C · DRD4 · 11p15.5 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C C Cytosine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs587776842

Gene: DRD4 — Dopamine Receptor D4 Chr 11:637537 11p15.5 Frameshift Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies8

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Total CCGCCGACCTCCTCC 0.98907CC 0.01093CCGCCGACCTCCTCCCCGCCGACCTCCTCC 0.978303CCGCCGACCTCCTCCCC/CCCCGCCGACCTCCTCC 0.02152CCCC 0.000177pop=33,949
African CCGCCGACCTCCTCC 0.9972CC 0.0028CCGCCGACCTCCTCCCCGCCGACCTCCTCC 0.994444CCGCCGACCTCCTCCCC/CCCCGCCGACCTCCTCC 0.005556CCCC 0pop=6,147
African American CCGCCGACCTCCTCC 0.9973CC 0.0027CCGCCGACCTCCTCCCCGCCGACCTCCTCC 0.99458CCGCCGACCTCCTCCCC/CCCCGCCGACCTCCTCC 0.00542CCCC 0pop=5,929
African Others CCGCCGACCTCCTCC 0.995CC 0.005CCGCCGACCTCCTCCCCGCCGACCTCCTCC 0.990741CCGCCGACCTCCTCCCC/CCCCGCCGACCTCCTCC 0.009259CCCC 0pop=218
European CCGCCGACCTCCTCC 0.98582CC 0.01418CCGCCGACCTCCTCCCCGCCGACCTCCTCC 0.971891CCGCCGACCTCCTCCCC/CCCCGCCGACCTCCTCC 0.027852CCCC 0.000257pop=23,338
Latin American 1 CCGCCGACCTCCTCC 0.987CC 0.013CCGCCGACCTCCTCCCCGCCGACCTCCTCC 0.974138CCGCCGACCTCCTCCCC/CCCCGCCGACCTCCTCC 0.025862CCCC 0pop=232
Latin American 2 CCGCCGACCTCCTCC 0.999CC 0.001CCGCCGACCTCCTCCCCGCCGACCTCCTCC 0.997625CCGCCGACCTCCTCCCC/CCCCGCCGACCTCCTCC 0.002375CCCC 0pop=842
Other CCGCCGACCTCCTCC 0.9939CC 0.0061CCGCCGACCTCCTCCCCGCCGACCTCCTCC 0.987758CCGCCGACCTCCTCCCC/CCCCGCCGACCTCCTCC 0.012242CCCC 0pop=3,104

Studies3

Unread Studies3
1
PID
Human induced pluripotent stem cell (iPSC) lines are a powerful tool for studying development and disease, but the considerable phenotypic variation between lines makes it challenging to replicate key findings and integrate data across research groups. To address this issue, we sub-cloned candidate human iPSC lines and deeply characterized their genetic properties using whole genome sequencing, their genomic stability upon CRISPR-Cas9-based gene editing, and their phenotypic properties including differentiation to commonly used cell types. These studies identified KOLF2.1J as an all-around well-performing iPSC line. We then shared KOLF2.1J with groups around the world who tested its performance in head-to-head comparisons with their own preferred iPSC lines across a diverse range of differentiation protocols and functional assays. On the strength of these findings, we have made KOLF2.1J and its gene-edited derivative clones readily accessible to promote the standardization required for large-scale collaborative science in the stem cell field.
2
PID
Human induced pluripotent stem cell (iPSC) lines are a powerful tool for studying development and disease, but the considerable phenotypic variation between lines makes it challenging to replicate key findings and integrate data across research groups. To address this issue, we sub-cloned candidate iPSC lines and deeply characterised their genetic properties using whole genome sequencing, their genomic stability upon CRISPR/Cas9-based gene editing, and their phenotypic properties including differentiation to commonly-used cell types. These studies identified KOLF2.1J as an all-around well-performing iPSC line. We then shared KOLF2.1J with groups around the world who tested its performance in head-to-head comparisons with their own preferred iPSC lines across a diverse range of differentiation protocols and functional assays. On the strength of these findings, we have made KOLF2.1J and hundreds of its gene-edited derivative clones readily accessible to promote the standardization required for large-scale collaborative science in the stem cell field.
3
Human induced pluripotent stem cell (iPSC) lines are a powerful tool for studying development and disease, but the considerable phenotypic variation between lines makes it challenging to replicate key findings and integrate data across research groups. To address this issue, we sub-cloned candidate human iPSC lines and deeply characterized their genetic properties using whole genome sequencing, their genomic stability upon CRISPR/Cas9-based gene editing, and their phenotypic properties including differentiation to commonlyused cell types. These studies identified KOLF2.1J as an all-around well-performing iPSC line. We then shared KOLF2.1J with groups around the world who tested its performance in head-to-head comparisons with their own preferred iPSC lines across a diverse range of differentiation protocols and functional assays. On the strength of these findings, we have made KOLF2.1J and its gene-edited derivative clones readily accessible to promote the standardization required for large-scale collaborative science in the stem cell field.
Curated Studies0

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

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Unused Studies0

No unused studies.