Product Details

SNP ID
rs201082115
Assay Type
Functionally tested
NCBI dbSNP Submissions
6
Location
Chr.1:39955369 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCAGCATCCTCCAAAGCACTGAAC[G/T]CCCGGCCCAGGTGAAGGTGAGGGCC
Phenotype
MIM: 614397
Polymorphism
G/T, Transversion 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_001136493.2 258 Missense Mutation CGC,CTC R26L NP_001129965.1
NM_001287808.1 258 UTR 5 NP_001274737.1
NM_001287809.1 258 Missense Mutation CGC,CTC R26L NP_001274738.1
NM_032793.4 258 Missense Mutation CGC,CTC R26L NP_116182.2
XM_005271285.1 258 Missense Mutation CGC,CTC R26L XP_005271342.1
XM_011542312.2 258 Missense Mutation CGC,CTC R26L XP_011540614.1

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