Product Details

SNP ID

rs397517322

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:71712781 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCAGCTATGAGGCCAGCGTCCCT[G/C]AGGACATCCCTGAAGGCCACAGCAT

Phenotype

MIM: 605516

Polymorphism

G/C, Transversion 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	3757	UTR 3			NP_001157847.1
NM_001168390.1	3757	UTR 3			NP_001161862.1
XM_011539808.2	3757	UTR 3			XP_011538110.1
XM_011539809.2	3757	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	3757	Missense Mutation	CAG,GAG	Q1113E	NP_001165401.1
NM_001171931.1	3757	Intron			NP_001165402.1
NM_001171932.1	3757	Intron			NP_001165403.1
NM_001171933.1	3757	Intron			NP_001165404.1
NM_001171934.1	3757	Intron			NP_001165405.1
NM_001171935.1	3757	Intron			NP_001165406.1
NM_001171936.1	3757	Intron			NP_001165407.1
NM_022124.5	3757	Missense Mutation	CAG,GAG	Q1113E	NP_071407.4
NM_052836.3	3757	Intron			NP_443068.1
XM_006717940.3	3757	Missense Mutation	CAG,GAG	Q1178E	XP_006718003.1
XM_006717942.3	3757	Missense Mutation	CAG,GAG	Q1156E	XP_006718005.1
XM_011540039.2	3757	Missense Mutation	CAG,GAG	Q1178E	XP_011538341.1
XM_011540042.2	3757	Missense Mutation	CAG,GAG	Q1178E	XP_011538344.1
XM_011540043.2	3757	Missense Mutation	CAG,GAG	Q1178E	XP_011538345.1
XM_011540044.2	3757	Missense Mutation	CAG,GAG	Q1133E	XP_011538346.1
XM_011540045.2	3757	Missense Mutation	CAG,GAG	Q1178E	XP_011538347.1
XM_011540046.2	3757	Missense Mutation	CAG,GAG	Q998E	XP_011538348.1
XM_011540047.2	3757	Missense Mutation	CAG,GAG	Q784E	XP_011538349.1
XM_011540048.2	3757	Missense Mutation	CAG,GAG	Q1178E	XP_011538350.1
XM_011540049.2	3757	Missense Mutation	CAG,GAG	Q1178E	XP_011538351.1
XM_011540051.2	3757	Missense Mutation	CAG,GAG	Q1178E	XP_011538353.1
XM_011540052.2	3757	Intron			XP_011538354.1
XM_017016499.1	3757	Missense Mutation	CAG,GAG	Q1158E	XP_016871988.1
XM_017016500.1	3757	Missense Mutation	CAG,GAG	Q1178E	XP_016871989.1
XM_017016501.1	3757	Missense Mutation	CAG,GAG	Q324E	XP_016871990.1
XM_017016502.1	3757	Missense Mutation	CAG,GAG	Q324E	XP_016871991.1
XM_017016503.1	3757	Intron			XP_016871992.1
XM_017016504.1	3757	Intron			XP_016871993.1
XM_017016505.1	3757	Intron			XP_016871994.1
XM_017016506.1	3757	Intron			XP_016871995.1
XM_017016507.1	3757	Intron			XP_016871996.1
XM_017016508.1	3757	Intron			XP_016871997.1

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