Product Details

SNP ID

rs148678293

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:52124619 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGACGTTGATAGTGTAATCATTGT[A/G]TCCAGCAAACAGCAGGCGACCTTGA

Phenotype

MIM: 604447

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GNB5 PubMed Links

Gene Details

Gene

GNB5

Gene Name

G protein subunit beta 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006578.3	2613	Missense Mutation	CAC,TAC	H302Y	NP_006569.1
NM_016194.3	2613	Missense Mutation	CAC,TAC	H344Y	NP_057278.2
XM_011521162.2	2613	Missense Mutation	CAC,TAC	H302Y	XP_011519464.1
XM_011521163.2	2613	Missense Mutation	CAC,TAC	H250Y	XP_011519465.1
XM_017021867.1	2613	Missense Mutation	CAC,TAC	H161Y	XP_016877356.1

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