Product Details

SNP ID
rs200925858
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:2303657 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCTGCTCCCGGCCTGCGGGGCCA[C/G]AGTAGCCAGGATCCCGCGCAGCTCC
Phenotype
MIM: 610963 MIM: 606477
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
SMG6 PubMed Links

Gene Details

Gene
SMG6
Gene Name
SMG6, nonsense mediated mRNA decay factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256827.1 180 Intron NP_001243756.1
NM_001256828.1 180 Intron NP_001243757.1
NM_001282326.1 180 Intron NP_001269255.1
NM_017575.4 180 Missense Mutation CTG,GTG L22V NP_060045.4
XM_005256569.3 180 Intron XP_005256626.1
XM_005256570.3 180 Missense Mutation CTG,GTG L22V XP_005256627.1
XM_005256571.4 180 Intron XP_005256628.1
XM_011523769.2 180 UTR 5 XP_011522071.1
XM_011523772.2 180 Missense Mutation CTG,GTG L22V XP_011522074.1
XM_011523773.2 180 Missense Mutation CTG,GTG L22V XP_011522075.1
XM_011523774.2 180 Missense Mutation CTG,GTG L22V XP_011522076.1
XM_011523775.2 180 Intron XP_011522077.1
XM_017024398.1 180 Missense Mutation CTG,GTG L22V XP_016879887.1
XM_017024399.1 180 Intron XP_016879888.1
Gene
SRR
Gene Name
serine racemase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304803.1 180 Intron NP_001291732.1
NM_021947.2 180 Intron NP_068766.1
XM_006721565.3 180 Intron XP_006721628.1
XM_006721566.3 180 Intron XP_006721629.1
XM_011523974.2 180 Intron XP_011522276.1

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