Product Details

SNP ID
rs2279841
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:15601668 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GAGAGGTGAGAATGTAAACACGCGC[A/G]TTCTCCAATCAGAACTGCGCTCTCT
Phenotype
MIM: 609019 MIM: 604300
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
BTD PubMed Links
Additional Information
For this assay, SNP(s) [rs115586700] 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
BTD
Gene Name
biotinidase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001281726.1 185 Intron NP_001268655.1
XM_006713314.3 185 Intron XP_006713377.1
XM_011534041.2 185 Intron XP_011532343.1
XM_017007088.1 185 Intron XP_016862577.1
Gene
HACL1
Gene Name
2-hydroxyacyl-CoA lyase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001284413.1 185 UTR 5 NP_001271342.1
NM_001284415.1 185 UTR 5 NP_001271344.1
NM_001284416.1 185 UTR 5 NP_001271345.1
NM_012260.3 185 UTR 5 NP_036392.2

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