Product Details

SNP ID
rs139409959
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:127965120 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGCGGCTCCTGTTCACTTTCGTTC[C/G]GCAGGCCGGCCATAGTTACACTCCC
Phenotype
MIM: 611124
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ABHD18 PubMed Links

Gene Details

Gene
ABHD18
Gene Name
abhydrolase domain containing 18
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319305.1 91 Intron NP_001306234.1
NM_001319306.1 91 Intron NP_001306235.1
NM_001319307.1 91 Intron NP_001306236.1
XM_005263238.4 91 Intron XP_005263295.1
XM_006714318.3 91 Intron XP_006714381.1
XM_006714320.3 91 Intron XP_006714383.1
XM_006714322.3 91 Intron XP_006714385.1
XM_011532272.2 91 Intron XP_011530574.1
XM_011532273.2 91 Intron XP_011530575.1
XM_011532274.2 91 Intron XP_011530576.1
XM_011532276.1 91 Intron XP_011530578.1
XM_011532278.2 91 Intron XP_011530580.1
XM_011532279.2 91 Intron XP_011530581.1
XM_017008631.1 91 Intron XP_016864120.1
XM_017008632.1 91 Intron XP_016864121.1
Gene
MFSD8
Gene Name
major facilitator superfamily domain containing 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152778.2 91 Missense Mutation CCG,CGG P5R NP_689991.1
XM_005262893.1 91 Missense Mutation CCG,CGG P5R XP_005262950.1
XM_005262896.1 91 Missense Mutation CCG,CGG P5R XP_005262953.1
XM_005262897.2 91 Missense Mutation CCG,CGG P5R XP_005262954.1
XM_005262898.2 91 Missense Mutation CCG,CGG P5R XP_005262955.1
XM_011531830.1 91 Missense Mutation CCG,CGG P5R XP_011530132.1
XM_011531831.1 91 Missense Mutation CCG,CGG P5R XP_011530133.1
XM_011531832.1 91 Missense Mutation CCG,CGG P5R XP_011530134.1
XM_017007989.1 91 Missense Mutation CCG,CGG P5R XP_016863478.1

View Full Product Details