Product Details

SNP ID
rs199969160
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:2244662 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATGAAAAAGCGAGGCTTCGGGGCC[A/G]GCCGGTGGAATGGCTTTGGGGGCAA
Phenotype
MIM: 606906 MIM: 600312 MIM: 614905
Polymorphism
A/G, Transition 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_002452.3 183 Missense Mutation AGC,GGC S30G NP_002443.3
NM_198948.1 183 Missense Mutation AGC,GGC S30G NP_945186.1
NM_198949.1 183 Missense Mutation AGC,GGC S53G NP_945187.1
NM_198950.1 183 Missense Mutation AGC,GGC S30G NP_945188.1
NM_198952.1 183 Missense Mutation AGC,GGC S53G NP_945190.1
NM_198953.1 183 Missense Mutation AGC,GGC S30G NP_945191.1
NM_198954.1 183 Missense Mutation AGC,GGC S53G NP_945192.1
Gene
SNX8
Gene Name
sorting nexin 8
There are no transcripts associated with this gene.

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