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SNP ID

rs145850889

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7342064 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTGGGTCCACCAGAGCCCATGAT[A/G]GCGGTATGCGGAGGGTCTGCATCTG

Phenotype

MIM: 607763 MIM: 609848

Polymorphism

A/G, 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	434	Missense Mutation	ATA,ATG	I76M	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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