Product Details

SNP ID
rs201678997
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53253517 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGAAACTGGGGGGAGAACTATGAC[C/T]GGCAGCGTGCCTTCTCAAGGACCTG
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MFSD5 PubMed Links

Gene Details

Gene
MFSD5
Gene Name
major facilitator superfamily domain containing 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001170790.1 827 Missense Mutation CGG,TGG R335W NP_001164261.1
NM_032889.4 827 Missense Mutation CGG,TGG R228W NP_116278.3
XM_005269197.1 827 Missense Mutation CGG,TGG R335W XP_005269254.1
XM_005269198.4 827 Missense Mutation CGG,TGG R228W XP_005269255.1

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