Product Details

SNP ID

rs1059528

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:77721383 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGATGGTGTCCTTGACGGCAGCAAA[G/C]ACAAAGCGGATATTCTCGGTGTCTG

Phenotype

MIM: 600998

Polymorphism

G/C, Transversion 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	1234	Silent Mutation	GTC,GTG	V340V	NP_002063.2
XM_017014628.1	1234	Silent Mutation	GTC,GTG	V282V	XP_016870117.1

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