Product Details

SNP ID
rs143058480
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:15601893 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGGGCGGAAGGCGCGCTAAGAGC[A/G]GGTACGGAGGGGGCGTGGTGCGGCG
Phenotype
MIM: 609019 MIM: 604300
Polymorphism
A/G, Transition 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_001281726.1 153 Missense Mutation AGA,GGA R15G NP_001268655.1
XM_006713314.3 153 UTR 5 XP_006713377.1
XM_011534041.2 153 UTR 5 XP_011532343.1
XM_017007088.1 153 UTR 5 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_001284413.1 153 Intron NP_001271342.1
NM_001284415.1 153 Intron NP_001271344.1
NM_001284416.1 153 Intron NP_001271345.1
NM_012260.3 153 Intron NP_036392.2

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