Product Details

SNP ID

rs139470418

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:144095918 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGGCATGCTGGCGGCAGGGGGTG[C/T]GGGGCTGGCCATGGCTCTGCATTCG

Phenotype

MIM: 123980 MIM: 603048 MIM: 610210 MIM: 611885

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CYC1 PubMed Links

Gene Details

Gene

CYC1

Gene Name

cytochrome c1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001916.4	280	Missense Mutation	GCG,GTG	A72V	NP_001907.2
XM_017013102.1	280	Missense Mutation	GCG,GTG	A13V	XP_016868591.1

Gene

GPAA1

Gene Name

glycosylphosphatidylinositol anchor attachment 1

There are no transcripts associated with this gene.

Gene

MAF1

Gene Name

MAF1 homolog, negative regulator of RNA polymerase III

There are no transcripts associated with this gene.

Gene

SHARPIN

Gene Name

SHANK associated RH domain interactor

There are no transcripts associated with this gene.

View Full Product Details