Product Details

SNP ID

rs188563877

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:2235245 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTCTGGAATTCCTCTGTCAGTCT[A/C]CTCTGTAACCGACGGCTTTGACTTC

Phenotype

MIM: 602686 MIM: 606906 MIM: 600312

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

MAD1L1 PubMed Links

Gene Details

Gene

MAD1L1

Gene Name

MAD1 mitotic arrest deficient like 1

There are no transcripts associated with this gene.

Gene

MRM2

Gene Name

mitochondrial rRNA methyltransferase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013393.1	647	Missense Mutation	AGG,AGT	R206S	NP_037525.1

Gene

NUDT1

Gene Name

nudix hydrolase 1

There are no transcripts associated with this gene.

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