Product Details

SNP ID
rs116276965
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:39965863 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCCTTTTCTCCTGCCAGGGATGA[C/T]TGTGGAAGTGCTGGGCACAGTGCTG
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_001136493.2 633 Missense Mutation ACT,ATT T201I NP_001129965.1
NM_001287808.1 633 Missense Mutation ACT,ATT T32I NP_001274737.1
NM_001287809.1 633 Missense Mutation ACT,ATT T151I NP_001274738.1
NM_032793.4 633 Missense Mutation ACT,ATT T188I NP_116182.2
XM_005271285.1 633 Missense Mutation ACT,ATT T186I XP_005271342.1
XM_011542312.2 633 Missense Mutation ACT,ATT T188I XP_011540614.1

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