Product Details

SNP ID

rs140042949

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:144105966 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCCACGTGCTGGAGGCACTTTCT[C/T]CACCCCAGACTTCAGGACTGAGCCC

Phenotype

MIM: 123980 MIM: 610210 MIM: 611885

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CYC1 PubMed Links

Gene Details

Gene

CYC1

Gene Name

cytochrome c1

There are no transcripts associated with this gene.

Gene

MAF1

Gene Name

MAF1 homolog, negative regulator of RNA polymerase III

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032272.4	805	Missense Mutation	CCA,TCA	P61S	NP_115648.2
XM_017013903.1	805	Missense Mutation	CCA,TCA	P61S	XP_016869392.1
XM_017013904.1	805	Intron			XP_016869393.1

Gene

SHARPIN

Gene Name

SHANK associated RH domain interactor

There are no transcripts associated with this gene.

Gene

WDR97

Gene Name

WD repeat domain 97

There are no transcripts associated with this gene.

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