Product Details

SNP ID
rs77182520
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:4311398 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAAATCTATCCCCAATGAAAGGCC[A/G]TGCAACTGGTTCCTTGCAGAACTGC
Phenotype
MIM: 609834 MIM: 607939
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SETMAR PubMed Links

Gene Details

Gene
SETMAR
Gene Name
SET domain and mariner transposase fusion gene
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243723.1 1148 Intron NP_001230652.1
NM_001276325.1 1148 Intron NP_001263254.1
NM_001320676.1 1148 Intron NP_001307605.1
NM_001320677.1 1148 Intron NP_001307606.1
NM_001320678.1 1148 Intron NP_001307607.1
NM_006515.3 1148 Intron NP_006506.3
XM_006713292.3 1148 Intron XP_006713355.1
XM_006713294.3 1148 Intron XP_006713357.1
XM_017007032.1 1148 Intron XP_016862521.1
Gene
SUMF1
Gene Name
sulfatase modifying factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164674.1 1148 Intron NP_001158146.1
NM_001164675.1 1148 Intron NP_001158147.1
NM_182760.3 1148 Intron NP_877437.2
XM_011533624.2 1148 Intron XP_011531926.1
XM_011533625.2 1148 Intron XP_011531927.1
XM_011533626.2 1148 Intron XP_011531928.1
XM_017006252.1 1148 Intron XP_016861741.1
XM_017006253.1 1148 Intron XP_016861742.1
XM_017006254.1 1148 Intron XP_016861743.1
XM_017006255.1 1148 UTR 3 XP_016861744.1

View Full Product Details