Product Details

SNP ID

rs144148146

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:2235375 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGAGCCTGTCATGATCGAGGTCC[C/T]GGAACCCTGTGGCATTGGGCGCCAT

Phenotype

MIM: 602686 MIM: 606906 MIM: 600312

Polymorphism

C/T, Transition 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	517	Missense Mutation	CAG,CGG	Q163R	NP_037525.1

Gene

NUDT1

Gene Name

nudix hydrolase 1

There are no transcripts associated with this gene.

View Full Product Details