Genetics Genetics Research
CHROMOSOME 16 ABCC6 16p13.11 GENE VIEW ABCC6 · 16p13.11 16p14 16p12 rs72653745 — ~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 rs72653745 Tryptophan 1223 → Stop C / T · ABCC6 · 16p13.11 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ T HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ T 5′ 3′ T C Cytosine — reference allele T Thymine — variant allele genetics.jdge.cc

rs72653745

Tryptophan 1223 → Stop Gene: ABCC6 — ATP Binding Cassette Subfamily C Member 6 Chr 16:16159549 16p13.11 Stop Gained
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

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Studies0

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