Product Details

SNP ID

rs200082967

Assay Type

Functionally tested

NCBI dbSNP Submissions

8

Location

Chr.1:10463138 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTAAGGATGTGGCTCGCCAGCGCAA[C/T]GTCCGAGGAGGTCTCTCTGCTGATA

Phenotype

MIM: 601882

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DFFA PubMed Links

Gene Details

Gene

DFFA

Gene Name

DNA fragmentation factor subunit alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004401.2	801	Missense Mutation	ATT,GTT	I235V	NP_004392.1
NM_213566.1	801	Missense Mutation	ATT,GTT	I235V	NP_998731.1

View Full Product Details