Product Details

SNP ID

rs112427646

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:2244616 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTATACCCTGGTGCTGGTCCTGCA[C/G]CCTCAGCGAGTTCTCCTGGGCATGA

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	137	Silent Mutation	CAC,CAG	H14Q	NP_002443.3
NM_198948.1	137	Silent Mutation	CAC,CAG	H14Q	NP_945186.1
NM_198949.1	137	Silent Mutation	CAC,CAG	H37Q	NP_945187.1
NM_198950.1	137	Silent Mutation	CAC,CAG	H14Q	NP_945188.1
NM_198952.1	137	Silent Mutation	CAC,CAG	H37Q	NP_945190.1
NM_198953.1	137	Silent Mutation	CAC,CAG	H14Q	NP_945191.1
NM_198954.1	137	Silent Mutation	CAC,CAG	H37Q	NP_945192.1

Gene

SNX8

Gene Name

sorting nexin 8

There are no transcripts associated with this gene.

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