Product Details

SNP ID

rs73977652

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7342024 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCAGCCGCGCCTTCGTTGTCGGCA[C/T]TTGTGACCTGGCCCGCCTGGGTCCA

Phenotype

MIM: 607763 MIM: 609848

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ACAP1 PubMed Links

Gene Details

Gene

ACAP1

Gene Name

ArfGAP with coiled-coil, ankyrin repeat and PH domains 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014716.3	394	Missense Mutation	ACT,ATT	T63I	NP_055531.1

Gene

KCTD11

Gene Name

potassium channel tetramerization domain containing 11

There are no transcripts associated with this gene.

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