Product Details

SNP ID

rs1048125

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137552451 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGTACGGCTTCGAGCCCACACAG[A/G]AGGGAAAGCTCTTCCAGCTCTACCC

Phenotype

MIM: 613210 MIM: 611846 MIM: 612122

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DPH7 PubMed Links

Gene Details

Gene

DPH7

Gene Name

diphthamide biosynthesis 7

There are no transcripts associated with this gene.

Gene

MRPL41

Gene Name

mitochondrial ribosomal protein L41

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032477.2	500	Missense Mutation	AAG,GAG	K124E	NP_115866.1

Gene

PNPLA7

Gene Name

patatin like phospholipase domain containing 7

There are no transcripts associated with this gene.

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