Product Details

SNP ID

rs140777530

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:71818695 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACACTTCTCAGTTCCCAACAAGGG[C/T]TTATGGGCCGAGGGGCAGGCTCCAA

Phenotype

MIM: 605516 MIM: 176801

Polymorphism

C/T, 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	1621	Silent Mutation	AAA,AAG	K490K	NP_001035930.1
NM_001042466.2	1621	Silent Mutation	AAA,AAG	K489K	NP_001035931.1
NM_002778.3	1621	Silent Mutation	AAA,AAG	K487K	NP_002769.1

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