Product Details

SNP ID

rs147807563

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:75111945 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTATCATCATGTCACGGGAGCTCA[C/T]GTTCCATACCAGGAAAGGAGTGTTC

Phenotype

MIM: 607490 MIM: 612060

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

LDHD PubMed Links

Additional Information

For this assay, SNP(s) [rs3217256] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1918	UTR 3			NP_705690.2
NM_194436.2	1918	UTR 3			NP_919417.1

Gene

ZNRF1

Gene Name

zinc and ring finger 1, E3 ubiquitin protein ligase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032268.4	1918	Intron			NP_115644.1
XM_011523392.1	1918	Intron			XP_011521694.1
XM_017023793.1	1918	Intron			XP_016879282.1
XM_017023794.1	1918	Intron			XP_016879283.1

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