Product Details

SNP ID
rs186342970
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:212043090 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTATGGAGAAACAGGAGTCCCAGT[G/T]CCTCCTTTTGGATGTACCTTCTCTT
Phenotype
MIM: 610617 MIM: 611350
Polymorphism
G/T, Transversion 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_001286229.1 192 Intron NP_001273158.1
NM_001286230.1 192 Intron NP_001273159.1
NM_016448.3 192 Silent Mutation GTG,GTT V50V NP_057532.3
XM_011509614.1 192 UTR 5 XP_011507916.1
Gene
INTS7
Gene Name
integrator complex subunit 7
There are no transcripts associated with this gene.

Gene
RPL21P28
Gene Name
ribosomal protein L21 pseudogene 28
There are no transcripts associated with this gene.

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