Product Details

SNP ID: rs201460866
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.8:37844786 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCCCACCCCGGTGGCTCCTTCTCTC[A/G]GGTCTCCACTTCTGCTGTCCCATCC
Phenotype: MIM: 606823 MIM: 607013
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: ADGRA2 PubMed Links

Gene Details

Gene: ADGRA2
Gene Name: adhesion G protein-coupled receptor A2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032777.9	1094	Intron			NP_116166.9
XM_005273471.3	1094	Intron			XP_005273528.1
XM_011544481.2	1094	Intron			XP_011542783.1
XM_011544482.2	1094	Intron			XP_011542784.1
XM_011544483.2	1094	Intron			XP_011542785.1

Gene: BRF2
Gene Name: BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018310.3	1094	Nonsense Mutation	CGA,TGA	R322*	NP_060780.2

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