Product Details

SNP ID
rs144500439
Assay Type
Functionally tested
NCBI dbSNP Submissions
6
Location
Chr.1:154583370 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAACATGAGTAAAGGAAACAGTTT[A/C]AAGCACTGACAGTTTTTACGAGTGA
Phenotype
MIM: 146920 MIM: 118507
Polymorphism
A/C, Transversion 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 5165 UTR 3 NP_001020278.1
NM_001111.4 5165 UTR 3 NP_001102.2
NM_001193495.1 5165 UTR 3 NP_001180424.1
NM_015840.3 5165 UTR 3 NP_056655.2
NM_015841.3 5165 UTR 3 NP_056656.2
XM_006711109.2 5165 UTR 3 XP_006711172.1
XM_006711111.3 5165 UTR 3 XP_006711174.1
XM_006711112.2 5165 UTR 3 XP_006711175.1
XM_006711113.2 5165 UTR 3 XP_006711176.1
XM_011509060.1 5165 UTR 3 XP_011507362.1
XM_011509061.2 5165 UTR 3 XP_011507363.2
XM_011509062.1 5165 UTR 3 XP_011507364.1
XM_017000037.1 5165 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 5165 Intron NP_000739.1

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