Product Details

SNP ID

rs141491413

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:15560879 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGTCTTTATTTACATATTAGAGC[A/G]GGTCAGCCAATGAAAATCCTAGAAA

Phenotype

MIM: 604300

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HACL1 PubMed Links

Gene Details

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	2112	Missense Mutation			NP_001271342.1
NM_001284415.1	2112	Missense Mutation			NP_001271344.1
NM_001284416.1	2112	Missense Mutation			NP_001271345.1
NM_012260.3	2112	Missense Mutation			NP_036392.2

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