Product Details

SNP ID

rs34695403

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:40407639 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTTTACCTCTCTCCTATTAGCTT[C/T]GTCAGACCATGGCTAAGTTCCTTCA

Phenotype

MIM: 607036

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

IVD PubMed Links

Gene Details

Gene

IVD

Gene Name

isovaleryl-CoA dehydrogenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001159508.1	188	Intron			NP_001152980.1
NM_002225.3	188	Missense Mutation	CGT,TGT	R53C	NP_002216.2
XM_005254350.2	188	Missense Mutation	CGT,TGT	R53C	XP_005254407.1
XM_006720492.2	188	Missense Mutation	CGT,TGT	R53C	XP_006720555.1
XM_006720495.2	188	Missense Mutation	CGT,TGT	R53C	XP_006720558.1
XM_017022149.1	188	Missense Mutation	CGT,TGT	R53C	XP_016877638.1
XM_017022150.1	188	Missense Mutation	CGT,TGT	R53C	XP_016877639.1
XM_017022151.1	188	Missense Mutation	CGT,TGT	R53C	XP_016877640.1
XM_017022152.1	188	Missense Mutation	CGT,TGT	R53C	XP_016877641.1
XM_017022153.1	188	Missense Mutation	CGT,TGT	R53C	XP_016877642.1
XM_017022154.1	188	Missense Mutation	CGT,TGT	R34C	XP_016877643.1
XM_017022155.1	188	Missense Mutation	CGT,TGT	R53C	XP_016877644.1
XM_017022156.1	188	Missense Mutation	CGT,TGT	R34C	XP_016877645.1
XM_017022157.1	188	Missense Mutation	CGT,TGT	R53C	XP_016877646.1
XM_017022158.1	188	Missense Mutation	CGT,TGT	R53C	XP_016877647.1

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