Product Details

SNP ID

rs199510686

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:71712745 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGGATGTGAATGACAACCGGCCC[A/G]TCTTTCTGCAGAGCAGCTATGAGGC

Phenotype

MIM: 605516

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C10orf105 PubMed Links

Gene Details

Gene

C10orf105

Gene Name

chromosome 10 open reading frame 105

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164375.2	3793	UTR 3			NP_001157847.1
NM_001168390.1	3793	UTR 3			NP_001161862.1
XM_011539808.2	3793	UTR 3			XP_011538110.1
XM_011539809.2	3793	UTR 3			XP_011538111.1

Gene

CDH23

Gene Name

cadherin-related 23

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171930.1	3793	Missense Mutation	ATC,GTC	I1101V	NP_001165401.1
NM_001171931.1	3793	Intron			NP_001165402.1
NM_001171932.1	3793	Intron			NP_001165403.1
NM_001171933.1	3793	Intron			NP_001165404.1
NM_001171934.1	3793	Intron			NP_001165405.1
NM_001171935.1	3793	Intron			NP_001165406.1
NM_001171936.1	3793	Intron			NP_001165407.1
NM_022124.5	3793	Missense Mutation	ATC,GTC	I1101V	NP_071407.4
NM_052836.3	3793	Intron			NP_443068.1
XM_006717940.3	3793	Missense Mutation	ATC,GTC	I1166V	XP_006718003.1
XM_006717942.3	3793	Missense Mutation	ATC,GTC	I1144V	XP_006718005.1
XM_011540039.2	3793	Missense Mutation	ATC,GTC	I1166V	XP_011538341.1
XM_011540042.2	3793	Missense Mutation	ATC,GTC	I1166V	XP_011538344.1
XM_011540043.2	3793	Missense Mutation	ATC,GTC	I1166V	XP_011538345.1
XM_011540044.2	3793	Missense Mutation	ATC,GTC	I1121V	XP_011538346.1
XM_011540045.2	3793	Missense Mutation	ATC,GTC	I1166V	XP_011538347.1
XM_011540046.2	3793	Missense Mutation	ATC,GTC	I986V	XP_011538348.1
XM_011540047.2	3793	Missense Mutation	ATC,GTC	I772V	XP_011538349.1
XM_011540048.2	3793	Missense Mutation	ATC,GTC	I1166V	XP_011538350.1
XM_011540049.2	3793	Missense Mutation	ATC,GTC	I1166V	XP_011538351.1
XM_011540051.2	3793	Missense Mutation	ATC,GTC	I1166V	XP_011538353.1
XM_011540052.2	3793	Intron			XP_011538354.1
XM_017016499.1	3793	Missense Mutation	ATC,GTC	I1146V	XP_016871988.1
XM_017016500.1	3793	Missense Mutation	ATC,GTC	I1166V	XP_016871989.1
XM_017016501.1	3793	Missense Mutation	ATC,GTC	I312V	XP_016871990.1
XM_017016502.1	3793	Missense Mutation	ATC,GTC	I312V	XP_016871991.1
XM_017016503.1	3793	Intron			XP_016871992.1
XM_017016504.1	3793	Intron			XP_016871993.1
XM_017016505.1	3793	Intron			XP_016871994.1
XM_017016506.1	3793	Intron			XP_016871995.1
XM_017016507.1	3793	Intron			XP_016871996.1
XM_017016508.1	3793	Intron			XP_016871997.1

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