Product Details

SNP ID
rs139178900
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.10:71818680 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTTGGGCCCCATATACACTTCTC[A/G]GTTCCCAACAAGGGCTTATGGGCCG
Phenotype
MIM: 605516 MIM: 176801
Polymorphism
A/G, Transition 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 1636 Silent Mutation ACC,ACT T495T NP_001035930.1
NM_001042466.2 1636 Silent Mutation ACC,ACT T494T NP_001035931.1
NM_002778.3 1636 Silent Mutation ACC,ACT T492T NP_002769.1

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