Product Details

SNP ID

rs77821631

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:71712808 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACATCCCTGAAGGCCACAGCATC[G/T]TGCAGGCAGGTGGCCCGTGGCCTCT

Phenotype

MIM: 605516

Polymorphism

G/T, 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	3730	UTR 3			NP_001157847.1
NM_001168390.1	3730	UTR 3			NP_001161862.1
XM_011539808.2	3730	UTR 3			XP_011538110.1
XM_011539809.2	3730	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	3730	Missense Mutation	GTG,TTG	V1122L	NP_001165401.1
NM_001171931.1	3730	Intron			NP_001165402.1
NM_001171932.1	3730	Intron			NP_001165403.1
NM_001171933.1	3730	Intron			NP_001165404.1
NM_001171934.1	3730	Intron			NP_001165405.1
NM_001171935.1	3730	Intron			NP_001165406.1
NM_001171936.1	3730	Intron			NP_001165407.1
NM_022124.5	3730	Missense Mutation	GTG,TTG	V1122L	NP_071407.4
NM_052836.3	3730	Intron			NP_443068.1
XM_006717940.3	3730	Missense Mutation	GTG,TTG	V1187L	XP_006718003.1
XM_006717942.3	3730	Missense Mutation	GTG,TTG	V1165L	XP_006718005.1
XM_011540039.2	3730	Missense Mutation	GTG,TTG	V1187L	XP_011538341.1
XM_011540042.2	3730	Missense Mutation	GTG,TTG	V1187L	XP_011538344.1
XM_011540043.2	3730	Missense Mutation	GTG,TTG	V1187L	XP_011538345.1
XM_011540044.2	3730	Missense Mutation	GTG,TTG	V1142L	XP_011538346.1
XM_011540045.2	3730	Missense Mutation	GTG,TTG	V1187L	XP_011538347.1
XM_011540046.2	3730	Missense Mutation	GTG,TTG	V1007L	XP_011538348.1
XM_011540047.2	3730	Missense Mutation	GTG,TTG	V793L	XP_011538349.1
XM_011540048.2	3730	Missense Mutation	GTG,TTG	V1187L	XP_011538350.1
XM_011540049.2	3730	Missense Mutation	GTG,TTG	V1187L	XP_011538351.1
XM_011540051.2	3730	Missense Mutation	GTG,TTG	V1187L	XP_011538353.1
XM_011540052.2	3730	Intron			XP_011538354.1
XM_017016499.1	3730	Missense Mutation	GTG,TTG	V1167L	XP_016871988.1
XM_017016500.1	3730	Missense Mutation	GTG,TTG	V1187L	XP_016871989.1
XM_017016501.1	3730	Missense Mutation	GTG,TTG	V333L	XP_016871990.1
XM_017016502.1	3730	Missense Mutation	GTG,TTG	V333L	XP_016871991.1
XM_017016503.1	3730	Intron			XP_016871992.1
XM_017016504.1	3730	Intron			XP_016871993.1
XM_017016505.1	3730	Intron			XP_016871994.1
XM_017016506.1	3730	Intron			XP_016871995.1
XM_017016507.1	3730	Intron			XP_016871996.1
XM_017016508.1	3730	Intron			XP_016871997.1

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