Product Details

SNP ID

rs1127311

Assay Type

Functionally tested

NCBI dbSNP Submissions

62

Location

Chr.1:154584187 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AAAGTGCAGGATGGGAGGATGGCTG[A/G]GCATTATCTGCAGGCTCCAATCACA

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	4348	UTR 3			NP_001020278.1
NM_001111.4	4348	UTR 3			NP_001102.2
NM_001193495.1	4348	UTR 3			NP_001180424.1
NM_015840.3	4348	UTR 3			NP_056655.2
NM_015841.3	4348	UTR 3			NP_056656.2
XM_006711109.2	4348	UTR 3			XP_006711172.1
XM_006711111.3	4348	UTR 3			XP_006711174.1
XM_006711112.2	4348	UTR 3			XP_006711175.1
XM_006711113.2	4348	UTR 3			XP_006711176.1
XM_011509060.1	4348	UTR 3			XP_011507362.1
XM_011509061.2	4348	UTR 3			XP_011507363.2
XM_011509062.1	4348	UTR 3			XP_011507364.1
XM_017000037.1	4348	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	4348	Intron			NP_000739.1

View Full Product Details