Product Details

SNP ID
rs144313870
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:19473644 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCATCATAGGTGACCACGTTCTCC[C/T]GTACATCCTCTTCTGAAATGATCAA
Phenotype
MIM: 603019
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CDH18 PubMed Links

Gene Details

Gene
CDH18
Gene Name
cadherin 18
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001167667.1 2946 UTR 3 NP_001161139.1
NM_001291956.1 2946 Missense Mutation CAG,CGG Q652R NP_001278885.1
NM_001291957.1 2946 UTR 3 NP_001278886.1
NM_004934.3 2946 Missense Mutation CAG,CGG Q652R NP_004925.1
XM_005248228.3 2946 Missense Mutation CAG,CGG Q652R XP_005248285.1
XM_006714435.3 2946 Missense Mutation CAG,CGG Q652R XP_006714498.1
XM_011513928.2 2946 Missense Mutation CAG,CGG Q586R XP_011512230.1
XM_011513929.2 2946 Missense Mutation CAG,CGG Q484R XP_011512231.1
XM_011513930.2 2946 UTR 3 XP_011512232.1
XM_017008924.1 2946 Missense Mutation CAG,CGG Q652R XP_016864413.1
XM_017008925.1 2946 Missense Mutation CAG,CGG Q652R XP_016864414.1
XM_017008926.1 2946 Missense Mutation CAG,CGG Q652R XP_016864415.1
XM_017008927.1 2946 Missense Mutation CAG,CGG Q652R XP_016864416.1
XM_017008928.1 2946 Missense Mutation CAG,CGG Q652R XP_016864417.1
XM_017008929.1 2946 Missense Mutation CAG,CGG Q652R XP_016864418.1
XM_017008930.1 2946 Missense Mutation CAG,CGG Q652R XP_016864419.1
XM_017008931.1 2946 Missense Mutation CAG,CGG Q652R XP_016864420.1
XM_017008932.1 2946 Missense Mutation CAG,CGG Q652R XP_016864421.1
XM_017008933.1 2946 Missense Mutation CAG,CGG Q429R XP_016864422.1
XM_017008934.1 2946 Missense Mutation CAG,CGG Q429R XP_016864423.1
XM_017008935.1 2946 UTR 3 XP_016864424.1
XM_017008936.1 2946 UTR 3 XP_016864425.1
XM_017008937.1 2946 UTR 3 XP_016864426.1
XM_017008938.1 2946 UTR 3 XP_016864427.1
XM_017008939.1 2946 UTR 3 XP_016864428.1
XM_017008940.1 2946 UTR 3 XP_016864429.1
XM_017008941.1 2946 UTR 3 XP_016864430.1

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