Product Details

SNP ID

rs661968

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:33968868 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATTCAATGAATCTTTAATAAGTTCT[C/T]AACACTCAGATTGTTTGTGATCAGA

Phenotype

MIM: 605265 MIM: 118496

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AVEN PubMed Links

Gene Details

Gene

AVEN

Gene Name

apoptosis and caspase activation inhibitor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020371.2	555	Intron			NP_065104.1
XM_011521818.2	555	Intron			XP_011520120.1
XM_011521819.2	555	Intron			XP_011520121.1
XM_011521820.1	555	Intron			XP_011520122.1

Gene

CHRM5

Gene Name

cholinergic receptor muscarinic 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320917.1	555	UTR 5			NP_001307846.1
NM_012125.3	555	Intron			NP_036257.1

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