Product Details

SNP ID
rs199678453
Assay Type
Functionally tested
NCBI dbSNP Submissions
8
Location
Chr.1:93889073 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTTCACAATGACCGAATACCGCA[G/T]TAGCCACAGCGGCACCCACTCGTGC
Phenotype
MIM: 611199 MIM: 601176
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
DNTTIP2 PubMed Links

Gene Details

Gene
DNTTIP2
Gene Name
deoxynucleotidyltransferase terminal interacting protein 2
There are no transcripts associated with this gene.

Gene
GCLM
Gene Name
glutamate-cysteine ligase modifier subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308253.1 1111 Missense Mutation ATG,CTG M226L NP_001295182.1
NM_002061.3 1111 Missense Mutation ATG,CTG M248L NP_002052.1
XM_011541261.2 1111 Missense Mutation ATG,CTG M160L XP_011539563.1
XM_017001056.1 1111 UTR 3 XP_016856545.1
XM_017001057.1 1111 UTR 3 XP_016856546.1

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