Product Details

SNP ID
rs17852741
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:120641104 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGGGGAGCCAGCGTGTGCTCCCCC[A/G]GGCGCACTGCAGGCCCCGGGAGGCG
Phenotype
MIM: 605563
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CABP1 PubMed Links

Gene Details

Gene
CABP1
Gene Name
calcium binding protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001033677.1 486 Missense Mutation CAG,CGG Q140R NP_001028849.1
NM_004276.4 486 Intron NP_004267.2
NM_031205.3 486 Intron NP_112482.1
XM_017020235.1 486 Missense Mutation CAG,CGG Q140R XP_016875724.1
XM_017020236.1 486 Intron XP_016875725.1
XM_017020237.1 486 Intron XP_016875726.1
XM_017020238.1 486 Intron XP_016875727.1
XM_017020239.1 486 Intron XP_016875728.1

View Full Product Details