Product Details

SNP ID: rs144694231
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.7:25226655 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACTGTTTTTGATCGGGATTCTGGAT[G/T]TCTTGGTGCTGGCAGGTCATGGAGT
Phenotype: MIM: 616984
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: NPVF PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022150.3	557	Missense Mutation	GAA,GAC	E170D	NP_071433.3