Product Details

SNP ID

rs3129998

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:30689982 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTCCAATCCACGGCACCCCTCCC[A/G]CACTTGGTCTCCCTTGGGGACTCAA

Phenotype

MIM: 607593 MIM: 610990

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

MDC1 PubMed Links

Additional Information

For this assay, SNP(s) [rs140648860] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

MDC1

Gene Name

mediator of DNA damage checkpoint 1

There are no transcripts associated with this gene.

Gene

NRM

Gene Name

nurim (nuclear envelope membrane protein)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270707.1		Intron			NP_001257636.1
NM_001270708.1		Intron			NP_001257637.1
NM_001270709.1		Intron			NP_001257638.1
NM_001270710.1		Intron			NP_001257639.1
NM_007243.2		Intron			NP_009174.1
XM_017010224.1		Intron			XP_016865713.1
XM_017010225.1		Intron			XP_016865714.1

Gene

PPP1R18

Gene Name

protein phosphatase 1 regulatory subunit 18

There are no transcripts associated with this gene.

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