Product Details

SNP ID
rs138210630
Assay Type
Functionally Tested
NCBI dbSNP Submissions
4
Location
Chr.1:212035933 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCCGCCAGCCCCAGCTTGGCGTC[C/T]TGAGAAATGGTGAGTAACGGTCCCA
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_001286229.1 381 UTR 5 NP_001273158.1
NM_001286230.1 381 Silent Mutation CTG,TTG L15L NP_001273159.1
NM_016448.3 381 Silent Mutation CTG,TTG L15L NP_057532.3
XM_011509614.1 381 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_001199809.1 381 Intron NP_001186738.1
NM_001199811.1 381 Intron NP_001186740.1
NM_001199812.1 381 Intron NP_001186741.1
NM_015434.3 381 Intron NP_056249.1
XM_011509396.2 381 Intron XP_011507698.1
XM_017000962.1 381 Intron XP_016856451.1

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