Product Details

SNP ID

rs143416481

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:68874967 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCCATCCGCGCGATGCAGTACTC[A/G]GCCTGGTCGGGTGGCAGCTCGCGGC

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	3523	Silent Mutation	GCC,GCT	A857A	NP_001093.1
NM_001130004.1	3523	Silent Mutation	GCC,GCT	A879A	NP_001123476.1
NM_001130005.1	3523	Silent Mutation	GCC,GCT	A852A	NP_001123477.1
XM_011537265.2	3523	Silent Mutation	GCC,GCT	A894A	XP_011535567.1
XM_011537266.2	3523	Silent Mutation	GCC,GCT	A889A	XP_011535568.1
XM_011537267.2	3523	Silent Mutation	GCC,GCT	A886A	XP_011535569.1
XM_011537268.2	3523	Silent Mutation	GCC,GCT	A881A	XP_011535570.1
XM_017021720.1	3523	Silent Mutation	GCC,GCT	A1071A	XP_016877209.1
XM_017021721.1	3523	Silent Mutation	GCC,GCT	A1063A	XP_016877210.1
XM_017021722.1	3523	Silent Mutation	GCC,GCT	A1042A	XP_016877211.1
XM_017021723.1	3523	Silent Mutation	GCC,GCT	A1034A	XP_016877212.1
XM_017021725.1	3523	Silent Mutation	GCC,GCT	A1021A	XP_016877214.1
XM_017021726.1	3523	Silent Mutation	GCC,GCT	A1013A	XP_016877215.1
XM_017021727.1	3523	Silent Mutation	GCC,GCT	A860A	XP_016877216.1
XM_017021728.1	3523	Silent Mutation	GCC,GCT	A831A	XP_016877217.1

View Full Product Details