Product Details

SNP ID

rs192640536

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:68874876 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGTGGATTAGAGGTCACTCTCGC[C/T]GTACAGCGCCGTGGAGAAGGACATG

Phenotype

MIM: 102575

Polymorphism

C/T, 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	3614	Missense Mutation	AGC,GGC	S888G	NP_001093.1
NM_001130004.1	3614	Missense Mutation	AGC,GGC	S910G	NP_001123476.1
NM_001130005.1	3614	Missense Mutation	AGC,GGC	S883G	NP_001123477.1
XM_011537265.2	3614	Missense Mutation	AGC,GGC	S925G	XP_011535567.1
XM_011537266.2	3614	Missense Mutation	AGC,GGC	S920G	XP_011535568.1
XM_011537267.2	3614	Missense Mutation	AGC,GGC	S917G	XP_011535569.1
XM_011537268.2	3614	Missense Mutation	AGC,GGC	S912G	XP_011535570.1
XM_017021720.1	3614	Missense Mutation	AGC,GGC	S1102G	XP_016877209.1
XM_017021721.1	3614	Missense Mutation	AGC,GGC	S1094G	XP_016877210.1
XM_017021722.1	3614	Missense Mutation	AGC,GGC	S1073G	XP_016877211.1
XM_017021723.1	3614	Missense Mutation	AGC,GGC	S1065G	XP_016877212.1
XM_017021725.1	3614	Missense Mutation	AGC,GGC	S1052G	XP_016877214.1
XM_017021726.1	3614	Missense Mutation	AGC,GGC	S1044G	XP_016877215.1
XM_017021727.1	3614	Missense Mutation	AGC,GGC	S891G	XP_016877216.1
XM_017021728.1	3614	Missense Mutation	AGC,GGC	S862G	XP_016877217.1

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