Product Details

SNP ID

rs139120097

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:31141536 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAGGATCCCAGTGCAGACTCGAT[C/T]ACCAGCCACATGCACCTCTGCCAGC

Phenotype

MIM: 610560 MIM: 600823

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

PRSS36 PubMed Links

Additional Information

For this assay, SNP(s) [rs143680005] are located under a probe 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

PRSS36

Gene Name

protease, serine 36

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001258290.1	1893	Missense Mutation	AAT,GAT	N607D	NP_001245219.1
NM_001258291.1	1893	Missense Mutation	AAT,GAT	N612D	NP_001245220.1
NM_173502.4	1893	Missense Mutation	AAT,GAT	N612D	NP_775773.2
XM_011545758.2	1893	Missense Mutation	AAT,GAT	N387D	XP_011544060.1
XM_017022968.1	1893	Missense Mutation	AAT,GAT	N612D	XP_016878457.1
XM_017022969.1	1893	Intron			XP_016878458.1
XM_017022970.1	1893	Missense Mutation	AAT,GAT	N612D	XP_016878459.1
XM_017022971.1	1893	Intron			XP_016878460.1

Gene

PRSS8

Gene Name

protease, serine 8

There are no transcripts associated with this gene.

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