Product Details

SNP ID

rs727504705

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:71712770 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCTTTCTGCAGAGCAGCTATGAGG[C/T]CAGCGTCCCTGAGGACATCCCTGAA

Phenotype

MIM: 605516

Polymorphism

C/T, 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	3768	UTR 3			NP_001157847.1
NM_001168390.1	3768	UTR 3			NP_001161862.1
XM_011539808.2	3768	UTR 3			XP_011538110.1
XM_011539809.2	3768	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	3768	Missense Mutation	GCC,GTC	A1109V	NP_001165401.1
NM_001171931.1	3768	Intron			NP_001165402.1
NM_001171932.1	3768	Intron			NP_001165403.1
NM_001171933.1	3768	Intron			NP_001165404.1
NM_001171934.1	3768	Intron			NP_001165405.1
NM_001171935.1	3768	Intron			NP_001165406.1
NM_001171936.1	3768	Intron			NP_001165407.1
NM_022124.5	3768	Missense Mutation	GCC,GTC	A1109V	NP_071407.4
NM_052836.3	3768	Intron			NP_443068.1
XM_006717940.3	3768	Missense Mutation	GCC,GTC	A1174V	XP_006718003.1
XM_006717942.3	3768	Missense Mutation	GCC,GTC	A1152V	XP_006718005.1
XM_011540039.2	3768	Missense Mutation	GCC,GTC	A1174V	XP_011538341.1
XM_011540042.2	3768	Missense Mutation	GCC,GTC	A1174V	XP_011538344.1
XM_011540043.2	3768	Missense Mutation	GCC,GTC	A1174V	XP_011538345.1
XM_011540044.2	3768	Missense Mutation	GCC,GTC	A1129V	XP_011538346.1
XM_011540045.2	3768	Missense Mutation	GCC,GTC	A1174V	XP_011538347.1
XM_011540046.2	3768	Missense Mutation	GCC,GTC	A994V	XP_011538348.1
XM_011540047.2	3768	Missense Mutation	GCC,GTC	A780V	XP_011538349.1
XM_011540048.2	3768	Missense Mutation	GCC,GTC	A1174V	XP_011538350.1
XM_011540049.2	3768	Missense Mutation	GCC,GTC	A1174V	XP_011538351.1
XM_011540051.2	3768	Missense Mutation	GCC,GTC	A1174V	XP_011538353.1
XM_011540052.2	3768	Intron			XP_011538354.1
XM_017016499.1	3768	Missense Mutation	GCC,GTC	A1154V	XP_016871988.1
XM_017016500.1	3768	Missense Mutation	GCC,GTC	A1174V	XP_016871989.1
XM_017016501.1	3768	Missense Mutation	GCC,GTC	A320V	XP_016871990.1
XM_017016502.1	3768	Missense Mutation	GCC,GTC	A320V	XP_016871991.1
XM_017016503.1	3768	Intron			XP_016871992.1
XM_017016504.1	3768	Intron			XP_016871993.1
XM_017016505.1	3768	Intron			XP_016871994.1
XM_017016506.1	3768	Intron			XP_016871995.1
XM_017016507.1	3768	Intron			XP_016871996.1
XM_017016508.1	3768	Intron			XP_016871997.1

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