Product Details

SNP ID
rs201321591
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:48134938 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGAGACTGTGCAGCGTACACAATT[A/G]GTGCAGCAGCAGTTCTTGGTATAAT
Phenotype
MIM: 609802
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MYEF2 PubMed Links

Gene Details

Gene
MYEF2
Gene Name
myelin expression factor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001301210.1 1938 Intron NP_001288139.1
NM_016132.4 1938 Intron NP_057216.2
XM_005254422.4 1938 Intron XP_005254479.2
XM_005254424.4 1938 Intron XP_005254481.2
XM_005254425.4 1938 UTR 3 XP_005254482.2
XM_005254427.4 1938 Intron XP_005254484.1
XM_006720553.3 1938 Intron XP_006720616.1
XM_011521657.2 1938 Intron XP_011519959.1
XM_017022285.1 1938 UTR 3 XP_016877774.1
XM_017022286.1 1938 UTR 3 XP_016877775.1
XM_017022287.1 1938 UTR 3 XP_016877776.1
XM_017022288.1 1938 Intron XP_016877777.1
XM_017022289.1 1938 Intron XP_016877778.1
XM_017022290.1 1938 Intron XP_016877779.1
XM_017022291.1 1938 UTR 3 XP_016877780.1
XM_017022292.1 1938 UTR 3 XP_016877781.1
Gene
SLC24A5
Gene Name
solute carrier family 24 member 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_205850.2 1938 Missense Mutation AGT,GGT S182G NP_995322.1
XM_017022079.1 1938 Missense Mutation AGT,GGT S100G XP_016877568.1
XM_017022080.1 1938 Missense Mutation AGT,GGT S100G XP_016877569.1

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