Product Details

SNP ID
rs112827019
Assay Type
Functionally tested
NCBI dbSNP Submissions
9
Location
Chr.1:154582183 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACTGCAGCCATCATCACAGTACCC[A/G]AGTCTATGCTTGGGGGTCTTCCTCA
Phenotype
MIM: 146920 MIM: 118507
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ADAR PubMed Links

Gene Details

Gene
ADAR
Gene Name
adenosine deaminase, RNA specific
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001025107.2 6352 UTR 3 NP_001020278.1
NM_001111.4 6352 UTR 3 NP_001102.2
NM_001193495.1 6352 UTR 3 NP_001180424.1
NM_015840.3 6352 UTR 3 NP_056655.2
NM_015841.3 6352 UTR 3 NP_056656.2
XM_006711109.2 6352 UTR 3 XP_006711172.1
XM_006711111.3 6352 UTR 3 XP_006711174.1
XM_006711112.2 6352 UTR 3 XP_006711175.1
XM_006711113.2 6352 UTR 3 XP_006711176.1
XM_011509060.1 6352 UTR 3 XP_011507362.1
XM_011509061.2 6352 UTR 3 XP_011507363.2
XM_011509062.1 6352 UTR 3 XP_011507364.1
XM_017000037.1 6352 UTR 3 XP_016855526.1
Gene
CHRNB2
Gene Name
cholinergic receptor nicotinic beta 2 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000748.2 6352 Intron NP_000739.1

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