Product Details

SNP ID

rs201193955

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:68877194 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCTGGAATGTCACTACCCCCAGG[C/T]GGTTGGGGTCCACAATGCTCATGAT

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	3360	Missense Mutation	CAC,CGC	H803R	NP_001093.1
NM_001130004.1	3360	Missense Mutation	CAC,CGC	H825R	NP_001123476.1
NM_001130005.1	3360	Missense Mutation	CAC,CGC	H798R	NP_001123477.1
XM_011537265.2	3360	Missense Mutation	CAC,CGC	H840R	XP_011535567.1
XM_011537266.2	3360	Missense Mutation	CAC,CGC	H835R	XP_011535568.1
XM_011537267.2	3360	Missense Mutation	CAC,CGC	H832R	XP_011535569.1
XM_011537268.2	3360	Missense Mutation	CAC,CGC	H827R	XP_011535570.1
XM_017021720.1	3360	Missense Mutation	CAC,CGC	H1017R	XP_016877209.1
XM_017021721.1	3360	Missense Mutation	CAC,CGC	H1009R	XP_016877210.1
XM_017021722.1	3360	Missense Mutation	CAC,CGC	H988R	XP_016877211.1
XM_017021723.1	3360	Missense Mutation	CAC,CGC	H980R	XP_016877212.1
XM_017021725.1	3360	Missense Mutation	CAC,CGC	H967R	XP_016877214.1
XM_017021726.1	3360	Missense Mutation	CAC,CGC	H959R	XP_016877215.1
XM_017021727.1	3360	Missense Mutation	CAC,CGC	H806R	XP_016877216.1
XM_017021728.1	3360	Missense Mutation	CAC,CGC	H777R	XP_016877217.1

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