Product Details

SNP ID
rs140383492
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:20780734 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCAGACATGCCAGTGACAGCCACA[C/T]CTGTGTGAAGACAAAACACAATGAG
Phenotype
MIM: 145505
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ACSM3 PubMed Links

Gene Details

Gene
ACSM3
Gene Name
acyl-CoA synthetase medium-chain family member 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005622.3 840 Missense Mutation ACC,ATC T220I NP_005613.2
NM_202000.2 840 Missense Mutation ACC,ATC T220I NP_973729.1
XM_011545911.1 840 Missense Mutation ACC,ATC T257I XP_011544213.1
XM_017023523.1 840 Missense Mutation ACC,ATC T220I XP_016879012.1
XM_017023524.1 840 Missense Mutation ACC,ATC T220I XP_016879013.1
Gene
ERI2
Gene Name
ERI1 exoribonuclease family member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142725.1 840 Intron NP_001136197.1
NM_080663.2 840 Missense Mutation ATG,GTG M299V NP_542394.2

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