Product Details

SNP ID

rs200632520

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:71712706 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGCGACACACGGGCACAGCCACC[A/G]TGTTCGTCACTGTCCTGGATGTGAA

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	3832	UTR 3			NP_001157847.1
NM_001168390.1	3832	UTR 3			NP_001161862.1
XM_011539808.2	3832	UTR 3			XP_011538110.1
XM_011539809.2	3832	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	3832	Missense Mutation	ATG,GTG	M1088V	NP_001165401.1
NM_001171931.1	3832	Intron			NP_001165402.1
NM_001171932.1	3832	Intron			NP_001165403.1
NM_001171933.1	3832	Intron			NP_001165404.1
NM_001171934.1	3832	Intron			NP_001165405.1
NM_001171935.1	3832	Intron			NP_001165406.1
NM_001171936.1	3832	Intron			NP_001165407.1
NM_022124.5	3832	Missense Mutation	ATG,GTG	M1088V	NP_071407.4
NM_052836.3	3832	Intron			NP_443068.1
XM_006717940.3	3832	Missense Mutation	ATG,GTG	M1153V	XP_006718003.1
XM_006717942.3	3832	Missense Mutation	ATG,GTG	M1131V	XP_006718005.1
XM_011540039.2	3832	Missense Mutation	ATG,GTG	M1153V	XP_011538341.1
XM_011540042.2	3832	Missense Mutation	ATG,GTG	M1153V	XP_011538344.1
XM_011540043.2	3832	Missense Mutation	ATG,GTG	M1153V	XP_011538345.1
XM_011540044.2	3832	Missense Mutation	ATG,GTG	M1108V	XP_011538346.1
XM_011540045.2	3832	Missense Mutation	ATG,GTG	M1153V	XP_011538347.1
XM_011540046.2	3832	Missense Mutation	ATG,GTG	M973V	XP_011538348.1
XM_011540047.2	3832	Missense Mutation	ATG,GTG	M759V	XP_011538349.1
XM_011540048.2	3832	Missense Mutation	ATG,GTG	M1153V	XP_011538350.1
XM_011540049.2	3832	Missense Mutation	ATG,GTG	M1153V	XP_011538351.1
XM_011540051.2	3832	Missense Mutation	ATG,GTG	M1153V	XP_011538353.1
XM_011540052.2	3832	Intron			XP_011538354.1
XM_017016499.1	3832	Missense Mutation	ATG,GTG	M1133V	XP_016871988.1
XM_017016500.1	3832	Missense Mutation	ATG,GTG	M1153V	XP_016871989.1
XM_017016501.1	3832	Missense Mutation	ATG,GTG	M299V	XP_016871990.1
XM_017016502.1	3832	Missense Mutation	ATG,GTG	M299V	XP_016871991.1
XM_017016503.1	3832	Intron			XP_016871992.1
XM_017016504.1	3832	Intron			XP_016871993.1
XM_017016505.1	3832	Intron			XP_016871994.1
XM_017016506.1	3832	Intron			XP_016871995.1
XM_017016507.1	3832	Intron			XP_016871996.1
XM_017016508.1	3832	Intron			XP_016871997.1

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