Product Details

SNP ID

rs12931631

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:67280458 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCCAGGTCCAAGCAGGGCGATGCC[A/G]TCTGGCTTGAGCCCTGGGGCATTGG

Phenotype

MIM: 609526 MIM: 600477

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KCTD19 PubMed Links

Gene Details

Gene

KCTD19

Gene Name

potassium channel tetramerization domain containing 19

There are no transcripts associated with this gene.

Gene

PLEKHG4

Gene Name

pleckstrin homology and RhoGEF domain containing G4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001129727.2	759	Silent Mutation	CCA,CCG	P138P	NP_001123199.1
NM_001129728.1	759	Silent Mutation	CCA,CCG	P138P	NP_001123200.1
NM_001129729.2	759	Silent Mutation	CCA,CCG	P138P	NP_001123201.1
NM_001129731.2	759	Intron			NP_001123203.1
XM_011522985.2	759	Silent Mutation	CCA,CCG	P138P	XP_011521287.1
XM_011522986.2	759	Silent Mutation	CCA,CCG	P138P	XP_011521288.1
XM_011522987.2	759	Silent Mutation	CCA,CCG	P138P	XP_011521289.1
XM_011522988.2	759	Silent Mutation	CCA,CCG	P138P	XP_011521290.1

Gene

SLC9A5

Gene Name

solute carrier family 9 member A5

There are no transcripts associated with this gene.

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