Product Details

SNP ID

rs7170454

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.15:90718536 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CATGAGAGATCAGAAGATGAAGAAG[C/G]GGGTAGGCAAAAGTATTCTGTTTGG

Phenotype

MIM: 604610

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

BLM PubMed Links

Additional Information

For this assay, SNP(s) [rs115175743] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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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