Product Details

SNP ID

rs190827633

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:67280960 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTGGCTTCAGTCTGAGTGCAGCA[A/G]CCAGGAACTCATCCGCCTCCTGCTG

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	1019	Missense Mutation	AAC,AGC	N225S	NP_001123199.1
NM_001129728.1	1019	Missense Mutation	AAC,AGC	N225S	NP_001123200.1
NM_001129729.2	1019	Missense Mutation	AAC,AGC	N225S	NP_001123201.1
NM_001129731.2	1019	Missense Mutation	AAC,AGC	N144S	NP_001123203.1
XM_011522985.2	1019	Missense Mutation	AAC,AGC	N225S	XP_011521287.1
XM_011522986.2	1019	Missense Mutation	AAC,AGC	N225S	XP_011521288.1
XM_011522987.2	1019	Missense Mutation	AAC,AGC	N225S	XP_011521289.1
XM_011522988.2	1019	Missense Mutation	AAC,AGC	N225S	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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