Product Details

SNP ID

rs200200525

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:67289645 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGCCCCTCTGGATGAGCAGGTCC[A/G]TGCATCGGCCATATTTCCTGGCGAA

Phenotype

MIM: 609526

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KCTD19 PubMed Links

Gene Details

Gene

KCTD19

Gene Name

potassium channel tetramerization domain containing 19

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001100915.1	2756	Missense Mutation	ACG,ATG	T902M	NP_001094385.1

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	2756	Intron			NP_001123199.1
NM_001129728.1	2756	Intron			NP_001123200.1
NM_001129729.2	2756	Intron			NP_001123201.1
NM_001129731.2	2756	Intron			NP_001123203.1
XM_011522985.2	2756	Intron			XP_011521287.1
XM_011522986.2	2756	Intron			XP_011521288.1
XM_011522987.2	2756	Intron			XP_011521289.1
XM_011522988.2	2756	Intron			XP_011521290.1

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