Product Details

SNP ID
rs183448311
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:127920712 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCAGGAGGGTGATGGTGAGCACT[A/G]TTATTCCACACACCAGGCTGAATGC
Phenotype
MIM: 611124
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MFSD8 PubMed Links

Gene Details

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 2135 Missense Mutation ACA,ATA T492I NP_689991.1
XM_005262893.1 2135 Missense Mutation ACA,ATA T492I XP_005262950.1
XM_005262896.1 2135 Missense Mutation ACA,ATA T443I XP_005262953.1
XM_005262897.2 2135 Missense Mutation ACA,ATA T425I XP_005262954.1
XM_005262898.2 2135 UTR 3 XP_005262955.1
XM_011531830.1 2135 Missense Mutation ACA,ATA T454I XP_011530132.1
XM_011531831.1 2135 Missense Mutation ACA,ATA T387I XP_011530133.1
XM_011531832.1 2135 UTR 3 XP_011530134.1
XM_017007989.1 2135 UTR 3 XP_016863478.1

View Full Product Details