Product Details

SNP ID

rs116945712

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:2712806 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACGAGGCACACCAGGGGGCCGCC[C/T]GAGTCGCCCTGCGGGGGACGCAGAG

Phenotype

MIM: 611285 MIM: 608018

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KCTD5 PubMed Links

Gene Details

Gene

KCTD5

Gene Name

potassium channel tetramerization domain containing 5

There are no transcripts associated with this gene.

Gene

PRSS27

Gene Name

protease, serine 27

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318395.1	807	Silent Mutation	TCA,TCG	S127S	NP_001305324.1
NM_031948.4	807	Silent Mutation	TCA,TCG	S229S	NP_114154.1
XM_011522689.2	807	Silent Mutation	TCA,TCG	S127S	XP_011520991.1

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