Product Details

SNP ID
rs113471592
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:27460149 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCCCTGCTCGGCTTCCTGCCTGGA[A/G]CCTCCATGCTGTCCCGAGAACCCGA
Phenotype
MIM: 118502 MIM: 601212
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CHRNA2 PubMed Links

Gene Details

Gene
CHRNA2
Gene Name
cholinergic receptor nicotinic alpha 2 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000742.3 3543 UTR 3 NP_000733.2
NM_001282455.1 3543 UTR 3 NP_001269384.1
XM_005273397.2 3543 UTR 3 XP_005273454.1
XM_006716282.1 3543 UTR 3 XP_006716345.1
XM_011544388.1 3543 UTR 3 XP_011542690.1
XM_011544389.1 3543 UTR 3 XP_011542691.1
XM_017013003.1 3543 UTR 3 XP_016868492.1
XM_017013004.1 3543 UTR 3 XP_016868493.1
Gene
PTK2B
Gene Name
protein tyrosine kinase 2 beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004103.4 3543 Intron NP_004094.3
NM_173174.2 3543 Intron NP_775266.1
NM_173175.2 3543 Intron NP_775267.1
NM_173176.2 3543 Intron NP_775268.1
XM_005273447.4 3543 Intron XP_005273504.1
XM_005273448.4 3543 Intron XP_005273505.1
XM_011544441.2 3543 Intron XP_011542743.1
XM_011544442.2 3543 Intron XP_011542744.1
XM_017013214.1 3543 Intron XP_016868703.1
XM_017013215.1 3543 Intron XP_016868704.1
XM_017013216.1 3543 Intron XP_016868705.1

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