Product Details

SNP ID

rs140708063

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:67281095 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTGAAGCTCACCCCTTTAGGCCC[A/G]AAGTACAGGCACTGGGACTGACAGT

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	1069	Missense Mutation	AAA,GAA	K242E	NP_001123199.1
NM_001129728.1	1069	Missense Mutation	AAA,GAA	K242E	NP_001123200.1
NM_001129729.2	1069	Missense Mutation	AAA,GAA	K242E	NP_001123201.1
NM_001129731.2	1069	Missense Mutation	AAA,GAA	K161E	NP_001123203.1
XM_011522985.2	1069	Missense Mutation	AAA,GAA	K242E	XP_011521287.1
XM_011522986.2	1069	Missense Mutation	AAA,GAA	K242E	XP_011521288.1
XM_011522987.2	1069	Missense Mutation	AAA,GAA	K242E	XP_011521289.1
XM_011522988.2	1069	Missense Mutation	AAA,GAA	K242E	XP_011521290.1

Gene

SLC9A5

Gene Name

solute carrier family 9 member A5

There are no transcripts associated with this gene.

View Full Product Details