Product Details

SNP ID

rs200319330

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:75112475 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCAGCAGCTGCCGCTTGCCCATTC[C/T]GATGCCATGCTCCCCCGTGCACGTT

Phenotype

MIM: 607490 MIM: 612060

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LDHD PubMed Links

Gene Details

Gene

LDHD

Gene Name

lactate dehydrogenase D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153486.3	1388	Missense Mutation	AGA,GGA	R469G	NP_705690.2
NM_194436.2	1388	Missense Mutation	AGA,GGA	R446G	NP_919417.1

Gene

ZNRF1

Gene Name

zinc and ring finger 1, E3 ubiquitin protein ligase

There are no transcripts associated with this gene.

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