Product Details

SNP ID

rs14595

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:71817121 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTCAACCAAGAGGGTTGATGGCC[A/T]CCAGTCAAGAAACTGTGGCTCATGC

Phenotype

MIM: 605516 MIM: 176801

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CDH23 PubMed Links

Gene Details

Gene

CDH23

Gene Name

cadherin-related 23

There are no transcripts associated with this gene.

Gene

PSAP

Gene Name

prosaposin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042465.2	2055	UTR 3			NP_001035930.1
NM_001042466.2	2055	UTR 3			NP_001035931.1
NM_002778.3	2055	UTR 3			NP_002769.1

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