Product Details

SNP ID

rs200088321

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:67280332 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGCTCCTCAGTCCTGTCAGAAGG[G/T]CCAGGCCCCTCTGGAGTGGAGAGTC

Phenotype

MIM: 609526 MIM: 600477

Polymorphism

G/T, Transversion 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	633	Silent Mutation	GGG,GGT	G96G	NP_001123199.1
NM_001129728.1	633	Silent Mutation	GGG,GGT	G96G	NP_001123200.1
NM_001129729.2	633	Silent Mutation	GGG,GGT	G96G	NP_001123201.1
NM_001129731.2	633	Silent Mutation	GGG,GGT	G96G	NP_001123203.1
XM_011522985.2	633	Silent Mutation	GGG,GGT	G96G	XP_011521287.1
XM_011522986.2	633	Silent Mutation	GGG,GGT	G96G	XP_011521288.1
XM_011522987.2	633	Silent Mutation	GGG,GGT	G96G	XP_011521289.1
XM_011522988.2	633	Silent Mutation	GGG,GGT	G96G	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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