Product Details

SNP ID

rs140714007

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:64991984 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGTCTGTAAAGGCCTTTCCCCAG[C/T]GAGCAATACAGAATTTTCCAATAAT

Phenotype

MIM: 131170 MIM: 194624

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ERV3-1 PubMed Links

Gene Details

Gene

ERV3-1

Gene Name

endogenous retrovirus group 3 member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001007253.3	1637	Missense Mutation	CCC,CTC	P348L	NP_001007254.2

Gene

ZNF117

Gene Name

zinc finger protein 117

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015852.3	1637	Intron			NP_056936.2

View Full Product Details