Product Details

SNP ID
rs12330387
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:15606120 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTCCTTGACACAATGCCTCCTGTC[A/C]TTGTTGAAGAAGTACAGACTTCCCC
Phenotype
MIM: 609019 MIM: 604300
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
BTD PubMed Links

Gene Details

Gene
BTD
Gene Name
biotinidase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001281726.1 Intron NP_001268655.1
XM_006713314.3 Intron XP_006713377.1
XM_011534041.2 Intron XP_011532343.1
XM_017007088.1 Intron XP_016862577.1
Gene
HACL1
Gene Name
2-hydroxyacyl-CoA lyase 1
There are no transcripts associated with this gene.

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