Product Details

SNP ID

rs1056711

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:71816575 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCCATCCATATTTATTTGAAAAGG[G/T]CAAAAGGAGCATCTATGAGACAAGG

Phenotype

MIM: 605516 MIM: 176801

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CDH23 PubMed Links

Gene Details

Gene

CDH23

Gene Name

cadherin-related 23

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171930.1	2601	Intron			NP_001165401.1
NM_001171931.1	2601	Intron			NP_001165402.1
NM_001171932.1	2601	Intron			NP_001165403.1
NM_001171933.1	2601	Intron			NP_001165404.1
NM_001171934.1	2601	Intron			NP_001165405.1
NM_001171935.1	2601	Intron			NP_001165406.1
NM_001171936.1	2601	Intron			NP_001165407.1
NM_022124.5	2601	Intron			NP_071407.4
NM_052836.3	2601	Intron			NP_443068.1
XM_006717940.3	2601	Intron			XP_006718003.1
XM_006717942.3	2601	Intron			XP_006718005.1
XM_011540039.2	2601	Intron			XP_011538341.1
XM_011540042.2	2601	Intron			XP_011538344.1
XM_011540043.2	2601	Intron			XP_011538345.1
XM_011540044.2	2601	Intron			XP_011538346.1
XM_011540045.2	2601	Intron			XP_011538347.1
XM_011540046.2	2601	Intron			XP_011538348.1
XM_011540047.2	2601	Intron			XP_011538349.1
XM_011540048.2	2601	Intron			XP_011538350.1
XM_011540049.2	2601	Intron			XP_011538351.1
XM_011540051.2	2601	Intron			XP_011538353.1
XM_011540052.2	2601	Intron			XP_011538354.1
XM_017016499.1	2601	Intron			XP_016871988.1
XM_017016500.1	2601	Intron			XP_016871989.1
XM_017016501.1	2601	Intron			XP_016871990.1
XM_017016502.1	2601	Intron			XP_016871991.1
XM_017016503.1	2601	Intron			XP_016871992.1
XM_017016504.1	2601	Intron			XP_016871993.1
XM_017016505.1	2601	Intron			XP_016871994.1
XM_017016506.1	2601	Intron			XP_016871995.1
XM_017016507.1	2601	Intron			XP_016871996.1
XM_017016508.1	2601	Intron			XP_016871997.1

Gene

PSAP

Gene Name

prosaposin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042465.2	2601	UTR 3			NP_001035930.1
NM_001042466.2	2601	UTR 3			NP_001035931.1
NM_002778.3	2601	UTR 3			NP_002769.1

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