Product Details

SNP ID

rs7626148

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:15601713 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTCTTCTCGGCTCCTCCATTCGC[C/G]CGCCAGAATGCCAGAGGGAGGCGGG

Phenotype

MIM: 609019 MIM: 604300

Polymorphism

C/G, 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	140	Intron			NP_001268655.1
XM_006713314.3	140	Intron			XP_006713377.1
XM_011534041.2	140	Intron			XP_011532343.1
XM_017007088.1	140	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	140	UTR 5			NP_001271342.1
NM_001284415.1	140	UTR 5			NP_001271344.1
NM_001284416.1	140	UTR 5			NP_001271345.1
NM_012260.3	140	UTR 5			NP_036392.2

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