Product Details

SNP ID

rs200190622

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:100990475 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATGGAAAACAGACTTAGCATCTCC[A/C]TCTCCATTGGATGTATGCTGCCTCC

Phenotype

MIM: 611075 MIM: 611149

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

DPH5 PubMed Links

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	956	Missense Mutation	AGG,ATG	R264M	NP_001070862.1
NM_001077395.1	956	Missense Mutation	AGG,ATG	R263M	NP_001070863.1
NM_015958.2	956	Missense Mutation	AGG,ATG	R264M	NP_057042.2
XM_005270938.1	956	Missense Mutation	GAG,GAT	E229D	XP_005270995.1
XM_005270939.4	956	Missense Mutation	AGG,ATG	R151M	XP_005270996.1
XM_005270941.3	956	Missense Mutation	AGG,ATG	R143M	XP_005270998.1
XM_006710683.3	956	Missense Mutation	AGG,ATG	R143M	XP_006710746.1
XM_011541569.1	956	Missense Mutation	GAG,GAT	E228D	XP_011539871.1
XM_011541570.2	956	Missense Mutation	AGG,ATG	R151M	XP_011539872.1
XM_017001460.1	956	Missense Mutation	AGG,ATG	R264M	XP_016856949.1
XM_017001461.1	956	Missense Mutation	AGG,ATG	R151M	XP_016856950.1
XM_017001462.1	956	Missense Mutation	AGG,ATG	R142M	XP_016856951.1

Gene

SLC30A7

Gene Name

solute carrier family 30 member 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144884.1	956	Intron			NP_001138356.1
NM_133496.4	956	Intron			NP_598003.2
XM_011540779.2	956	Intron			XP_011539081.1
XM_017000400.1	956	Intron			XP_016855889.1
XM_017000401.1	956	Intron			XP_016855890.1

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