Product Details

SNP ID

rs199901015

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:68874953 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGCCGGTGTAGGGGGCCATCCGC[A/G]CGATGCAGTACTCAGCCTGGTCGGG

Phenotype

MIM: 102575

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACTN1 PubMed Links

Gene Details

Gene

ACTN1

Gene Name

actinin alpha 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001102.3	3537	Missense Mutation	GCG,GTG	A862V	NP_001093.1
NM_001130004.1	3537	Missense Mutation	GCG,GTG	A884V	NP_001123476.1
NM_001130005.1	3537	Missense Mutation	GCG,GTG	A857V	NP_001123477.1
XM_011537265.2	3537	Missense Mutation	GCG,GTG	A899V	XP_011535567.1
XM_011537266.2	3537	Missense Mutation	GCG,GTG	A894V	XP_011535568.1
XM_011537267.2	3537	Missense Mutation	GCG,GTG	A891V	XP_011535569.1
XM_011537268.2	3537	Missense Mutation	GCG,GTG	A886V	XP_011535570.1
XM_017021720.1	3537	Missense Mutation	GCG,GTG	A1076V	XP_016877209.1
XM_017021721.1	3537	Missense Mutation	GCG,GTG	A1068V	XP_016877210.1
XM_017021722.1	3537	Missense Mutation	GCG,GTG	A1047V	XP_016877211.1
XM_017021723.1	3537	Missense Mutation	GCG,GTG	A1039V	XP_016877212.1
XM_017021725.1	3537	Missense Mutation	GCG,GTG	A1026V	XP_016877214.1
XM_017021726.1	3537	Missense Mutation	GCG,GTG	A1018V	XP_016877215.1
XM_017021727.1	3537	Missense Mutation	GCG,GTG	A865V	XP_016877216.1
XM_017021728.1	3537	Missense Mutation	GCG,GTG	A836V	XP_016877217.1

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