Product Details

SNP ID
rs190982954
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:90723349 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTAGATATAGTTTTTCTTTTCTTTT[C/T]TTTTTTTTTTAATAGTAATTTTGGC
Phenotype
MIM: 604610
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BLM PubMed Links

Gene Details

Gene
BLM
Gene Name
Bloom syndrome RecQ like helicase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000057.3 Intron NP_000048.1
NM_001287246.1 Intron NP_001274175.1
NM_001287247.1 Intron NP_001274176.1
NM_001287248.1 Intron NP_001274177.1
XM_006720632.2 Intron XP_006720695.1
XM_011521881.2 Intron XP_011520183.1
XM_011521882.2 Intron XP_011520184.1
Gene
CRTC3-AS1
Gene Name
CRTC3 antisense RNA 1
There are no transcripts associated with this gene.

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