Product Details

SNP ID
rs199795370
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:66504877 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATCTTTTAAAGCGAGGTCCCAACT[C/G]ATTAAGGTAATCATAGCTTTCATCC
Phenotype
MIM: 603016
Polymorphism
C/G, 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 2440 UTR 3 NP_001257957.1
NM_021153.3 2440 Missense Mutation CAG,GAG Q752E NP_066976.1
XM_011525931.2 2440 Missense Mutation CAG,GAG Q541E XP_011524233.1
XM_011525932.1 2440 Intron XP_011524234.1
XM_017025711.1 2440 Missense Mutation CAG,GAG Q541E XP_016881200.1

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