Product Details

SNP ID

rs143427336

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:128457404 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACCTCCTGGACCACCAGAAGCCAA[C/G]TAGCCAACACAGAGCCCACCAAGGG

Phenotype

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

HILPDA PubMed Links

Gene Details

Gene

HILPDA

Gene Name

hypoxia inducible lipid droplet associated

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098786.1	284	Missense Mutation	CTA,GTA	L46V	NP_001092256.1
NM_013332.3	284	Missense Mutation	CTA,GTA	L46V	NP_037464.1

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