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SNP ID: rs142983862
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:64934871 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTCCCCACACACTGCAGCTGTACTT[G/T]GACCTGCGGGAGAGGGGAGTCCGTG
Phenotype: MIM: 609651 MIM: 601644
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: GPHA2 PubMed Links

Gene Details

Gene: GPHA2
Gene Name: glycoprotein hormone alpha 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_130769.3	1092	Missense Mutation	AAA,CAA	K98Q	NP_570125.1
XM_011544774.2	1092	Missense Mutation	AAA,CAA	K131Q	XP_011543076.1
XM_011544775.2	1092	Missense Mutation	AAA,CAA	K98Q	XP_011543077.1
XM_011544776.2	1092	Missense Mutation	AAA,CAA	K98Q	XP_011543078.1

Gene: MAJIN
Gene Name: membrane anchored junction protein

There are no transcripts associated with this gene.

Gene: PPP2R5B
Gene Name: protein phosphatase 2 regulatory subunit B'beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006244.3	1092	Intron			NP_006235.1
XM_011545132.2	1092	Intron			XP_011543434.1
XM_011545133.1	1092	Intron			XP_011543435.1
XM_011545134.2	1092	Intron			XP_011543436.1

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