Product Details

SNP ID

rs12747736

Assay Type

Functionally Tested

NCBI dbSNP Submissions

26

Location

Chr.1:101007003 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCATTTATCTGCCTTTTAAAATG[C/T]TTTAAAACCATTTCAGTCACCAAAT

Phenotype

MIM: 611075

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

DPH5 PubMed Links

Additional Information

For this assay, SNP(s) [rs146162895] are located under a probe 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

DPH5

Gene Name

diphthamide biosynthesis 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077394.1		Intron			NP_001070862.1
NM_001077395.1		Intron			NP_001070863.1
NM_015958.2		Intron			NP_057042.2
XM_005270938.1		Intron			XP_005270995.1
XM_005270939.4		Intron			XP_005270996.1
XM_005270941.3		Intron			XP_005270998.1
XM_006710683.3		Intron			XP_006710746.1
XM_011541569.1		Intron			XP_011539871.1
XM_011541570.2		Intron			XP_011539872.1
XM_017001460.1		Intron			XP_016856949.1
XM_017001461.1		Intron			XP_016856950.1
XM_017001462.1		Intron			XP_016856951.1

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