Product Details

SNP ID
rs143317285
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:40953761 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCCGTGTGGGCTTCGTGCGCGGC[C/T]ACAGCCGCCGTTTCTGGCAGGGAGA
Phenotype
MIM: 614587
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CHAC1 PubMed Links

Gene Details

Gene
CHAC1
Gene Name
ChaC glutathione specific gamma-glutamylcyclotransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142776.1 324 Missense Mutation CAC,TAC H102Y NP_001136248.1
NM_024111.3 324 Missense Mutation CAC,TAC H102Y NP_077016.2
XM_017022563.1 324 Missense Mutation CAC,TAC H102Y XP_016878052.1
XM_017022564.1 324 Missense Mutation CAC,TAC H102Y XP_016878053.1
XM_017022565.1 324 Missense Mutation CAC,TAC H102Y XP_016878054.1

View Full Product Details