Product Details

SNP ID
rs143100007
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:212035941 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCCCAGCTTGGCGTCCTGAGAAA[C/T]GGTGAGTAACGGTCCCAACCGCTGC
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_001286229.1 389 UTR 5 NP_001273158.1
NM_001286230.1 389 Silent Mutation AAC,AAT N17N NP_001273159.1
NM_016448.3 389 Silent Mutation AAC,AAT N17N NP_057532.3
XM_011509614.1 389 Intron XP_011507916.1
Gene
INTS7
Gene Name
integrator complex subunit 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199809.1 389 Intron NP_001186738.1
NM_001199811.1 389 Intron NP_001186740.1
NM_001199812.1 389 Intron NP_001186741.1
NM_015434.3 389 Intron NP_056249.1
XM_011509396.2 389 Intron XP_011507698.1
XM_017000962.1 389 Intron XP_016856451.1

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