Product Details

SNP ID

rs200471477

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:2713648 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGAGCAGGTTGCACTTGGGTGTGT[C/T]GATGATGGGCACAGCGAGTTTCTGC

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	679	Missense Mutation	AAC,GAC	N85D	NP_001305324.1
NM_031948.4	679	Missense Mutation	AAC,GAC	N187D	NP_114154.1
XM_011522689.2	679	Missense Mutation	AAC,GAC	N85D	XP_011520991.1

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