Product Details

SNP ID

rs12489552

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.3:46705800 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCCTGACCCACAGCCCAGCACGG[C/G]CCCACCCAAGCCCAAGCCGCCTCCG

Phenotype

MIM: 607950 MIM: 607237

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

PRSS50 PubMed Links

Additional Information

For this assay, SNP(s) [rs74548422] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	830	Missense Mutation	GCC,GGC	A35G	NP_671729.2
XM_006713097.3	830	UTR 5			XP_006713160.1

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