Product Details

SNP ID
rs60951620
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:66504951 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGCTCAGGGATCCAGCTAATGAC[A/C]CTGTTCCCTCAAAAGCGTAGGTCTG
Phenotype
MIM: 603016
Polymorphism
A/C, Transversion 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 2366 UTR 3 NP_001257957.1
NM_021153.3 2366 Missense Mutation GGG,GTG G727V NP_066976.1
XM_011525931.2 2366 Missense Mutation GGG,GTG G516V XP_011524233.1
XM_011525932.1 2366 Intron XP_011524234.1
XM_017025711.1 2366 Missense Mutation GGG,GTG G516V XP_016881200.1

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