Product Details

SNP ID
rs145119505
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:75028586 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGTGTGGCCAAAAGGAACAAAGCG[C/T]GGTCTATCTAAGTGGAGGCAAAACA
Phenotype
MIM: 605880
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DUPD1 PubMed Links

Gene Details

Gene
DUPD1
Gene Name
dual specificity phosphatase and pro isomerase domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001003892.1 3914 Intron NP_001003892.1
XM_011539747.2 3914 Intron XP_011538049.1
XM_017016176.1 3914 Intron XP_016871665.1
Gene
KAT6B
Gene Name
lysine acetyltransferase 6B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256468.1 3914 Silent Mutation CGC,CGT R1071R NP_001243397.1
NM_001256469.1 3914 Silent Mutation CGC,CGT R962R NP_001243398.1
NM_012330.3 3914 Silent Mutation CGC,CGT R1254R NP_036462.2
XM_005269664.2 3914 Silent Mutation CGC,CGT R1254R XP_005269721.1
XM_017016000.1 3914 Silent Mutation CGC,CGT R1254R XP_016871489.1
XM_017016001.1 3914 Silent Mutation CGC,CGT R1254R XP_016871490.1
XM_017016002.1 3914 Silent Mutation CGC,CGT R1254R XP_016871491.1
XM_017016003.1 3914 Silent Mutation CGC,CGT R1254R XP_016871492.1
XM_017016004.1 3914 Silent Mutation CGC,CGT R1200R XP_016871493.1
XM_017016005.1 3914 Silent Mutation CGC,CGT R1071R XP_016871494.1
XM_017016006.1 3914 Silent Mutation CGC,CGT R962R XP_016871495.1
XM_017016007.1 3914 Silent Mutation CGC,CGT R962R XP_016871496.1
XM_017016008.1 3914 Silent Mutation CGC,CGT R962R XP_016871497.1
XM_017016009.1 3914 Silent Mutation CGC,CGT R908R XP_016871498.1

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