Product Details

SNP ID

rs149077208

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:64939710 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTGCTCGCTCCTTAGGTGGAGGT[A/G]AGTTGTGCTGCAGGGGTGGGACAAT

Phenotype

MIM: 609651 MIM: 601644

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GPHA2 PubMed Links

Gene Details

Gene

GPHA2

Gene Name

glycoprotein hormone alpha 2

There are no transcripts associated with this gene.

Gene

MAJIN

Gene Name

membrane anchored junction protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001037225.2	713	Missense Mutation	CAC,TAC	H202Y	NP_001032302.1
NM_001300803.1	713	Missense Mutation	TCA,TTA	S145L	NP_001287732.1
NM_001318808.1	713	Missense Mutation	TCA,TTA	S117L	NP_001305737.1
XM_005273918.2	713	Missense Mutation	TCA,TTA	S223L	XP_005273975.1
XM_006718502.2	713	Missense Mutation	TCA,TTA	S262L	XP_006718565.1
XM_006718503.3	713	Missense Mutation	TCA,TTA	S262L	XP_006718566.1
XM_006718504.2	713	Missense Mutation	CAC,TAC	H241Y	XP_006718567.1
XM_006718505.2	713	Missense Mutation	TCA,TTA	S184L	XP_006718568.1
XM_011544940.2	713	Missense Mutation	TCA,TTA	S262L	XP_011543242.1
XM_011544941.2	713	Missense Mutation	TCA,TTA	S102L	XP_011543243.1

Gene

PPP2R5B

Gene Name

protein phosphatase 2 regulatory subunit B'beta

There are no transcripts associated with this gene.

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