Product Details

SNP ID
rs114889557
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:2244602 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCGCCTCCAGGCTCTATACCCTG[C/G]TGCTGGTCCTGCAGCCTCAGCGAGT
Phenotype
MIM: 606906 MIM: 600312 MIM: 614905
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
MRM2 PubMed Links

Gene Details

Gene
MRM2
Gene Name
mitochondrial rRNA methyltransferase 2
There are no transcripts associated with this gene.

Gene
NUDT1
Gene Name
nudix hydrolase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002452.3 123 Missense Mutation CTG,GTG L10V NP_002443.3
NM_198948.1 123 Missense Mutation CTG,GTG L10V NP_945186.1
NM_198949.1 123 Missense Mutation CTG,GTG L33V NP_945187.1
NM_198950.1 123 Missense Mutation CTG,GTG L10V NP_945188.1
NM_198952.1 123 Missense Mutation CTG,GTG L33V NP_945190.1
NM_198953.1 123 Missense Mutation CTG,GTG L10V NP_945191.1
NM_198954.1 123 Missense Mutation CTG,GTG L33V NP_945192.1
Gene
SNX8
Gene Name
sorting nexin 8
There are no transcripts associated with this gene.

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