Product Details

SNP ID
rs144767115
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:212044710 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTTGCCAATGAAGAAGGCTTTGTT[A/C]GATTGTATAACACAGAATCACAAAG
Phenotype
MIM: 610617 MIM: 611350
Polymorphism
A/C, 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_001286229.1 441 UTR 5 NP_001273158.1
NM_001286230.1 441 Silent Mutation AGA,CGA R35R NP_001273159.1
NM_016448.3 441 Silent Mutation AGA,CGA R77R NP_057532.3
XM_011509614.1 441 Silent Mutation AGA,CGA R15R 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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