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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