Product Details

SNP ID
rs147952657
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:96143910 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGATGACCCCCCGGCGCTGCTTAAC[A/G]AAGTCAAAGGCCTCGTCCAGCCGCA
Phenotype
MIM: 608860 MIM: 603068
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ASTL PubMed Links

Gene Details

Gene
ASTL
Gene Name
astacin-like metallo-endopeptidase (M12 family)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001002036.3 944 Intron NP_001002036.3
XM_011511205.2 944 Intron XP_011509507.1
XM_011511206.2 944 Intron XP_011509508.1
XM_011511207.2 944 Intron XP_011509509.1
XM_011511208.2 944 Intron XP_011509510.1
Gene
DUSP2
Gene Name
dual specificity phosphatase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004418.3 944 Silent Mutation TTC,TTT F286F NP_004409.1
XM_017003546.1 944 Silent Mutation TTC,TTT F314F XP_016859035.1

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