Product Details

SNP ID
rs146814012
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:66505269 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCAGGAAATAGAATCTGTTTTCTC[C/T]GTTGTTTTAAACCCAAAGTCAAAAA
Phenotype
MIM: 603016
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CDH19 PubMed Links

Gene Details

Gene
CDH19
Gene Name
cadherin 19
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271028.1 2048 UTR 3 NP_001257957.1
NM_021153.3 2048 Missense Mutation CAG,CGG Q621R NP_066976.1
XM_011525931.2 2048 Missense Mutation CAG,CGG Q410R XP_011524233.1
XM_011525932.1 2048 Intron XP_011524234.1
XM_017025711.1 2048 Missense Mutation CAG,CGG Q410R XP_016881200.1

View Full Product Details