Product Details

SNP ID
hCV25968997
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.1:212036075 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTCCCATGGCAAGGGTAAATTAG[C/T]GTTAGCAGGGACTACTAAAGAAAGC
Phenotype
MIM: 610617 MIM: 611350
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DTL PubMed Links

Gene Details

Gene
DTL
Gene Name
denticleless E3 ubiquitin protein ligase homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286229.1 Intron NP_001273158.1
NM_001286230.1 Intron NP_001273159.1
NM_016448.3 Intron NP_057532.3
Gene
INTS7
Gene Name
integrator complex subunit 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199809.1 Intron NP_001186738.1
NM_001199811.1 Intron NP_001186740.1
NM_001199812.1 Intron NP_001186741.1
NM_015434.3 Intron NP_056249.1

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