Product Details

SNP ID

rs144678242

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:46714218 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGTCTGCAGAGGCTTTGACTCAC[C/T]GTCAGCCTTGGAAAGTCCCCAGCCC

Phenotype

MIM: 607950 MIM: 607237

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PRSS46 PubMed Links

Gene Details

Gene

PRSS46

Gene Name

protease, serine 46

There are no transcripts associated with this gene.

Gene

PRSS50

Gene Name

protease, serine 50

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013270.4	813	Missense Mutation	AGC,GGC	S252G	NP_037402.1

Gene

TMIE

Gene Name

transmembrane inner ear

There are no transcripts associated with this gene.

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