Product Details

SNP ID

rs148398791

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:19473344 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGATTGTGTCGTTGCTGAATCCAGC[A/G]AGCTGATAGACCCAGCTTCTGATCT

Phenotype

MIM: 603019

Polymorphism

A/G, 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	3246	UTR 3			NP_001161139.1
NM_001291956.1	3246	Missense Mutation	TCG,TTG	S752L	NP_001278885.1
NM_001291957.1	3246	UTR 3			NP_001278886.1
NM_004934.3	3246	Missense Mutation	TCG,TTG	S752L	NP_004925.1
XM_005248228.3	3246	Missense Mutation	TCG,TTG	S752L	XP_005248285.1
XM_006714435.3	3246	Missense Mutation	TCG,TTG	S752L	XP_006714498.1
XM_011513928.2	3246	Missense Mutation	TCG,TTG	S686L	XP_011512230.1
XM_011513929.2	3246	Missense Mutation	TCG,TTG	S584L	XP_011512231.1
XM_011513930.2	3246	UTR 3			XP_011512232.1
XM_017008924.1	3246	Missense Mutation	TCG,TTG	S752L	XP_016864413.1
XM_017008925.1	3246	Missense Mutation	TCG,TTG	S752L	XP_016864414.1
XM_017008926.1	3246	Missense Mutation	TCG,TTG	S752L	XP_016864415.1
XM_017008927.1	3246	Missense Mutation	TCG,TTG	S752L	XP_016864416.1
XM_017008928.1	3246	Missense Mutation	TCG,TTG	S752L	XP_016864417.1
XM_017008929.1	3246	Missense Mutation	TCG,TTG	S752L	XP_016864418.1
XM_017008930.1	3246	Missense Mutation	TCG,TTG	S752L	XP_016864419.1
XM_017008931.1	3246	Missense Mutation	TCG,TTG	S752L	XP_016864420.1
XM_017008932.1	3246	Missense Mutation	TCG,TTG	S752L	XP_016864421.1
XM_017008933.1	3246	Missense Mutation	TCG,TTG	S529L	XP_016864422.1
XM_017008934.1	3246	Missense Mutation	TCG,TTG	S529L	XP_016864423.1
XM_017008935.1	3246	UTR 3			XP_016864424.1
XM_017008936.1	3246	UTR 3			XP_016864425.1
XM_017008937.1	3246	UTR 3			XP_016864426.1
XM_017008938.1	3246	UTR 3			XP_016864427.1
XM_017008939.1	3246	UTR 3			XP_016864428.1
XM_017008940.1	3246	UTR 3			XP_016864429.1
XM_017008941.1	3246	UTR 3			XP_016864430.1

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