Product Details

SNP ID
rs150667467
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:39965260 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTCATTGCCTACTTCCTCATCTGG[C/T]TCGTGCCCGACTTCCCACACGGCCA
Phenotype
MIM: 614397
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MFSD2A PubMed Links

Gene Details

Gene
MFSD2A
Gene Name
major facilitator superfamily domain containing 2A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001136493.2 473 Missense Mutation CTC,TTC L148F NP_001129965.1
NM_001287808.1 473 UTR 5 NP_001274737.1
NM_001287809.1 473 Missense Mutation CTC,TTC L98F NP_001274738.1
NM_032793.4 473 Missense Mutation CTC,TTC L135F NP_116182.2
XM_005271285.1 473 Missense Mutation CTC,TTC L133F XP_005271342.1
XM_011542312.2 473 Missense Mutation CTC,TTC L135F XP_011540614.1

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