Product Details

SNP ID

rs149494987

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:30702788 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCGCTCCCGAGCCCTGCTCAGTGC[A/G]TCTTGAAGGCTAAAGCCAAAGTTCT

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	5981	Silent Mutation	GAC,GAT	D1985D	NP_055456.2
XM_005249492.2	5981	Silent Mutation	GAC,GAT	D2006D	XP_005249549.1
XM_005249493.3	5981	Silent Mutation	GAC,GAT	D2005D	XP_005249550.1
XM_005249494.4	5981	Silent Mutation	GAC,GAT	D1985D	XP_005249551.1
XM_005249497.3	5981	Silent Mutation	GAC,GAT	D1816D	XP_005249554.1
XM_005249498.3	5981	Silent Mutation	GAC,GAT	D1742D	XP_005249555.1
XM_011515001.2	5981	Silent Mutation	GAC,GAT	D1985D	XP_011513303.1
XM_011515003.2	5981	Silent Mutation	GAC,GAT	D1985D	XP_011513305.1
XM_011515004.2	5981	Silent Mutation	GAC,GAT	D1857D	XP_011513306.1
XM_017011519.1	5981	Silent Mutation	GAC,GAT	D1985D	XP_016867008.1
XM_017011520.1	5981	Silent Mutation	GAC,GAT	D1984D	XP_016867009.1
XM_017011521.1	5981	Silent Mutation	GAC,GAT	D1795D	XP_016867010.1
XM_017011522.1	5981	Silent Mutation	GAC,GAT	D1741D	XP_016867011.1

Gene

MDC1-AS1

Gene Name

MDC1 antisense RNA 1

There are no transcripts associated with this gene.

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