Product Details

SNP ID
rs201121017
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:20770253 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGACCAATGGACTGATAAGGAAAA[G/T]GTATGGGGGGAGGGCCAGTCAGACC
Phenotype
MIM: 145505
Polymorphism
G/T, Transversion 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_005622.3 400 Missense Mutation AAG,AAT K73N NP_005613.2
NM_202000.2 400 Missense Mutation AAG,AAT K73N NP_973729.1
XM_011545911.1 400 Missense Mutation AAG,AAT K73N XP_011544213.1
XM_017023523.1 400 Missense Mutation AAG,AAT K73N XP_016879012.1
XM_017023524.1 400 Missense Mutation AAG,AAT K73N XP_016879013.1
Gene
ERI2
Gene Name
ERI1 exoribonuclease family member 2
There are no transcripts associated with this gene.

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