Product Details

SNP ID

rs201912542

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:47157454 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTTACCTCTCATCACGGTTCTTA[C/G]AGATCGAATAAGGTTCATTAGCTGT

Phenotype

MIM: 609382

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

HDHD2 PubMed Links

Gene Details

Gene

HDHD2

Gene Name

haloacid dehalogenase like hydrolase domain containing 2

There are no transcripts associated with this gene.

Gene

IER3IP1

Gene Name

immediate early response 3 interacting protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016097.4	272	Missense Mutation	CTA,GTA	L59V	NP_057181.1

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