Product Details

SNP ID

rs1059527

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:77721394 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGACGGCAGCAAAGACAAAGCGGA[T/C]ATTCTCGGTGTCTGTGGCGCACGTG

Phenotype

MIM: 600998

Polymorphism

T/C, Transition substitution

Allele Nomenclature

Literature Links

GNAQ PubMed Links

Gene Details

Gene

GNAQ

Gene Name

G protein subunit alpha q

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002072.4	1223	Missense Mutation	ATC,GTC	I337V	NP_002063.2
XM_017014628.1	1223	Missense Mutation	ATC,GTC	I279V	XP_016870117.1

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