Product Details

SNP ID
rs142802763
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:4307542 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAAAGAAATTGTTGCAGACAGGAA[C/T]AGCCAAGACAAGAGTGTATTTTCTC
Phenotype
MIM: 609834 MIM: 607939
Polymorphism
C/T, 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 Intron NP_001230652.1
NM_001276325.1 Intron NP_001263254.1
NM_001320676.1 Intron NP_001307605.1
NM_001320677.1 Intron NP_001307606.1
NM_001320678.1 Intron NP_001307607.1
NM_006515.3 Intron NP_006506.3
XM_006713292.3 Intron XP_006713355.1
XM_006713294.3 Intron XP_006713357.1
XM_017007032.1 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 Intron NP_001158146.1
NM_001164675.1 Intron NP_001158147.1
NM_182760.3 Intron NP_877437.2
XM_011533624.2 Intron XP_011531926.1
XM_011533625.2 Intron XP_011531927.1
XM_011533626.2 Intron XP_011531928.1
XM_017006252.1 Intron XP_016861741.1
XM_017006253.1 Intron XP_016861742.1
XM_017006254.1 Intron XP_016861743.1
XM_017006255.1 Intron XP_016861744.1

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