Product Details

SNP ID

rs111687572

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:67292034 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGAAGTGGACCATGACCGGCAGGT[A/G]GTGCATGTGGAGACACTGGGGCTCA

Phenotype

MIM: 615126 MIM: 109635

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ANKRD13D PubMed Links

Gene Details

Gene

ANKRD13D

Gene Name

ankyrin repeat domain 13D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_207354.2	18	Silent Mutation	GTA,GTG	V195V	NP_997237.2
XM_011544985.1	18	Silent Mutation	GTA,GTG	V195V	XP_011543287.1
XM_011544986.1	18	Silent Mutation	GTA,GTG	V108V	XP_011543288.1
XM_011544987.2	18	Silent Mutation	GTA,GTG	V108V	XP_011543289.1
XM_011544988.2	18	UTR 5			XP_011543290.1

Gene

GRK2

Gene Name

G protein-coupled receptor kinase 2

There are no transcripts associated with this gene.

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