Product Details

SNP ID

rs1804728

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48474244 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAACACCAGTCTCCACAATCCCAAT[G/T]TCCGGGACAAGCCGGGCCTGGAGCG

Phenotype

MIM: 602488 MIM: 603953

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CYTH2 PubMed Links

Gene Details

Gene

CYTH2

Gene Name

cytohesin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004228.6	910	Missense Mutation	GTC,TTC	V204F	NP_004219.3
NM_017457.5	910	Missense Mutation	GTC,TTC	V204F	NP_059431.1
XM_006723472.2	910	Missense Mutation	GTC,TTC	V226F	XP_006723535.1
XM_006723473.2	910	Missense Mutation	GTC,TTC	V226F	XP_006723536.1

Gene

KCNJ14

Gene Name

potassium voltage-gated channel subfamily J member 14

There are no transcripts associated with this gene.

Gene

LOC105372430

Gene Name

uncharacterized LOC105372430

There are no transcripts associated with this gene.

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