Product Details

SNP ID
rs35643688
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:39957126 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGAAACAACAGTTGTCTGTTTGC[A/C]ACAAGCTTTGCTATGCACTTGGGGG
Phenotype
MIM: 614397
Polymorphism
A/C, 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_001136493.2 281 Missense Mutation AAC,CAC N45H NP_001129965.1
NM_001287808.1 281 Intron NP_001274737.1
NM_001287809.1 281 Intron NP_001274738.1
NM_032793.4 281 Missense Mutation AAC,CAC N45H NP_116182.2
XM_005271285.1 281 Missense Mutation AAC,CAC N43H XP_005271342.1
XM_011542312.2 281 Missense Mutation AAC,CAC N45H XP_011540614.1

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