Product Details

SNP ID
rs146220928
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:113096734 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCAGGTGCTGCGGCTGCTCATCA[C/T]GGCCTGGGAGAGAAGACTCATCTTC
Phenotype
MIM: 602582 MIM: 604118
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DTX1 PubMed Links

Gene Details

Gene
DTX1
Gene Name
deltex E3 ubiquitin ligase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004416.2 2636 Missense Mutation ACG,ATG T553M NP_004407.2
XM_011538009.2 2636 Missense Mutation ACG,ATG T553M XP_011536311.1
Gene
RASAL1
Gene Name
RAS protein activator like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193520.1 2636 Intron NP_001180449.1
NM_001193521.1 2636 Intron NP_001180450.1
NM_001301202.1 2636 Intron NP_001288131.1
NM_004658.2 2636 Intron NP_004649.2
XM_005253950.4 2636 UTR 3 XP_005254007.1
XM_006719641.3 2636 UTR 3 XP_006719704.1
XM_006719642.3 2636 UTR 3 XP_006719705.1
XM_011538852.2 2636 UTR 3 XP_011537154.1
XM_011538853.2 2636 UTR 3 XP_011537155.1
XM_011538854.2 2636 UTR 3 XP_011537156.1
XM_017020028.1 2636 UTR 3 XP_016875517.1
XM_017020029.1 2636 UTR 3 XP_016875518.1
XM_017020030.1 2636 UTR 3 XP_016875519.1
XM_017020031.1 2636 UTR 3 XP_016875520.1

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