Product Details

SNP ID

rs188085072

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:46705902 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCATCTTTTCGCTCTTCGTGTTGT[C/T]CATCAGTGAGTAGCTGTTCCCTTCC

Phenotype

MIM: 607950 MIM: 607237

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PRSS50 PubMed Links

Gene Details

Gene

PRSS50

Gene Name

protease, serine 50

There are no transcripts associated with this gene.

Gene

TMIE

Gene Name

transmembrane inner ear

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_147196.2	932	Missense Mutation	TCC,TTC	S69F	NP_671729.2
XM_006713097.3	932	Missense Mutation	TCC,TTC	S16F	XP_006713160.1

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