Product Details

SNP ID

rs140061594

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:30702830 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAAGTTCTTCTCTTGCTCAGGGTC[A/G]GTCACCACATATTCATCCGGGGGTA

Phenotype

MIM: 607593

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MDC1 PubMed Links

Gene Details

Gene

MDC1

Gene Name

mediator of DNA damage checkpoint 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014641.2	5939	Silent Mutation	ACC,ACT	T1971T	NP_055456.2
XM_005249492.2	5939	Silent Mutation	ACC,ACT	T1992T	XP_005249549.1
XM_005249493.3	5939	Silent Mutation	ACC,ACT	T1991T	XP_005249550.1
XM_005249494.4	5939	Silent Mutation	ACC,ACT	T1971T	XP_005249551.1
XM_005249497.3	5939	Silent Mutation	ACC,ACT	T1802T	XP_005249554.1
XM_005249498.3	5939	Silent Mutation	ACC,ACT	T1728T	XP_005249555.1
XM_011515001.2	5939	Silent Mutation	ACC,ACT	T1971T	XP_011513303.1
XM_011515003.2	5939	Silent Mutation	ACC,ACT	T1971T	XP_011513305.1
XM_011515004.2	5939	Silent Mutation	ACC,ACT	T1843T	XP_011513306.1
XM_017011519.1	5939	Silent Mutation	ACC,ACT	T1971T	XP_016867008.1
XM_017011520.1	5939	Silent Mutation	ACC,ACT	T1970T	XP_016867009.1
XM_017011521.1	5939	Silent Mutation	ACC,ACT	T1781T	XP_016867010.1
XM_017011522.1	5939	Silent Mutation	ACC,ACT	T1727T	XP_016867011.1

Gene

MDC1-AS1

Gene Name

MDC1 antisense RNA 1

There are no transcripts associated with this gene.

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