Product Details

SNP ID

rs201195349

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:77728528 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGACTTACCATCATATTCTGGG[A/G]AGTAGTCGACTAGATGGGAATACAT

Phenotype

MIM: 600998

Polymorphism

A/G, 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	1089	Missense Mutation	TCC,TTC	S292F	NP_002063.2
XM_017014628.1	1089	Missense Mutation	TCC,TTC	S234F	XP_016870117.1

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