Product Details

SNP ID
rs184192552
Assay Type
Functionally tested
NCBI dbSNP Submissions
19
Location
Chr.1:162855072 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTCTCATCAGCACATGCCATTCCA[A/C]TATCACTAGCTGGGCTGGAACTAGG
Phenotype
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CCDC190 PubMed Links

Gene Details

Gene
CCDC190
Gene Name
coiled-coil domain containing 190
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_178550.4 3395 Missense Mutation AGT,ATT S201I NP_848645.3
XM_005245125.3 3395 Missense Mutation AGT,ATT S212I XP_005245182.1
XM_006711289.3 3395 Missense Mutation AGT,ATT S200I XP_006711352.1
XM_011509477.2 3395 Missense Mutation AGT,ATT S213I XP_011507779.1

View Full Product Details