Product Details

SNP ID

rs748503

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:71749708 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CATTCCTTTGGGCCTAACTGGGGGG[C/T]TTAGAAGCAGGGCCATGTGTCCAGG

Phenotype

MIM: 615608 MIM: 605516

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C10orf54 PubMed Links

Gene Details

Gene

C10orf54

Gene Name

chromosome 10 open reading frame 54

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022153.1	2622	UTR 3			NP_071436.1

Gene

CDH23

Gene Name

cadherin-related 23

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171930.1	2622	Intron			NP_001165401.1
NM_001171931.1	2622	Intron			NP_001165402.1
NM_001171932.1	2622	Intron			NP_001165403.1
NM_001171933.1	2622	Intron			NP_001165404.1
NM_001171934.1	2622	Intron			NP_001165405.1
NM_001171935.1	2622	Intron			NP_001165406.1
NM_001171936.1	2622	Intron			NP_001165407.1
NM_022124.5	2622	Intron			NP_071407.4
NM_052836.3	2622	Intron			NP_443068.1
XM_006717940.3	2622	Intron			XP_006718003.1
XM_006717942.3	2622	Intron			XP_006718005.1
XM_011540039.2	2622	Intron			XP_011538341.1
XM_011540042.2	2622	Intron			XP_011538344.1
XM_011540043.2	2622	Intron			XP_011538345.1
XM_011540044.2	2622	Intron			XP_011538346.1
XM_011540045.2	2622	Intron			XP_011538347.1
XM_011540046.2	2622	Intron			XP_011538348.1
XM_011540047.2	2622	Intron			XP_011538349.1
XM_011540048.2	2622	Intron			XP_011538350.1
XM_011540049.2	2622	Intron			XP_011538351.1
XM_011540051.2	2622	Intron			XP_011538353.1
XM_011540052.2	2622	Intron			XP_011538354.1
XM_017016499.1	2622	Intron			XP_016871988.1
XM_017016500.1	2622	Intron			XP_016871989.1
XM_017016501.1	2622	Intron			XP_016871990.1
XM_017016502.1	2622	Intron			XP_016871991.1
XM_017016503.1	2622	Intron			XP_016871992.1
XM_017016504.1	2622	Intron			XP_016871993.1
XM_017016505.1	2622	Intron			XP_016871994.1
XM_017016506.1	2622	Intron			XP_016871995.1
XM_017016507.1	2622	Intron			XP_016871996.1
XM_017016508.1	2622	Intron			XP_016871997.1

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