Product Details

SNP ID

rs117169628

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:89196249 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCCGGCCGTGCAGGGTGTCCAGG[A/G]GGCCGGCTGCCTGGCCCAGGAACCC

Phenotype

MIM: 114019

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CDH15 PubMed Links

Gene Details

Gene

CDH15

Gene Name

cadherin 15

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004933.2	2770	Intron			NP_004924.1

Gene

SLC22A31

Gene Name

solute carrier family 22 member 31

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242757.1	2770	Missense Mutation	CCC,CTC	P256L	NP_001229686.1
XM_011522897.2	2770	Missense Mutation	CCC,CTC	P256L	XP_011521199.1
XM_011522899.2	2770	Missense Mutation	CCC,CTC	P256L	XP_011521201.1
XM_017022962.1	2770	Missense Mutation	CCC,CTC	P289L	XP_016878451.1
XM_017022963.1	2770	Missense Mutation	CCC,CTC	P263L	XP_016878452.1
XM_017022964.1	2770	Missense Mutation	CCC,CTC	P263L	XP_016878453.1
XM_017022965.1	2770	Missense Mutation	CCC,CTC	P263L	XP_016878454.1
XM_017022966.1	2770	Missense Mutation	CCC,CTC	P263L	XP_016878455.1

Gene

ZNF778

Gene Name

zinc finger protein 778

There are no transcripts associated with this gene.

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