Product Details

SNP ID
rs142463225
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:112542510 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGTGGCCACATGGATCCTGGCAGC[C/T]GGTGGCGGAACCTGCCCAGCGGGCC
Phenotype
MIM: 602000 MIM: 608291
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
LOC105373562 PubMed Links

Gene Details

Gene
LOC105373562
Gene Name
uncharacterized LOC105373562
There are no transcripts associated with this gene.

Gene
POLR1B
Gene Name
RNA polymerase I subunit B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001137604.2 246 Missense Mutation CGG,TGG R6W NP_001131076.1
NM_001282772.1 246 Missense Mutation CGG,TGG R44W NP_001269701.1
NM_001282774.1 246 Missense Mutation CGG,TGG R6W NP_001269703.1
NM_001282776.1 246 UTR 5 NP_001269705.1
NM_001282777.1 246 UTR 5 NP_001269706.1
NM_001282779.1 246 UTR 5 NP_001269708.1
NM_019014.5 246 Missense Mutation CGG,TGG R6W NP_061887.2
Gene
TTL
Gene Name
tubulin tyrosine ligase
There are no transcripts associated with this gene.

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