Product Details

SNP ID
rs139872971
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:122848467 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACACTTGGCCTTGACATTGCAGG[C/G]ATCATTCTGGGCACACACCACGAGA
Phenotype
MIM: 605613
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
HIP1R PubMed Links

Gene Details

Gene
HIP1R
Gene Name
huntingtin interacting protein 1 related
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303097.1 272 Silent Mutation CGC,CGG R53R NP_001290026.1
NM_001303099.1 272 Silent Mutation CGC,CGG R41R NP_001290028.1
NM_003959.2 272 Silent Mutation CGC,CGG R53R NP_003950.1
XM_011538963.1 272 Silent Mutation CGC,CGG R41R XP_011537265.1

View Full Product Details