Product Details

SNP ID
rs139660855
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:68295295 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAATTCTCCTTCCTTTTCTTAGCTC[A/G]TGCCAGAGTTTGAAAAGCCCGGAGA
Phenotype
MIM: 613813
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MDM1 PubMed Links

Gene Details

Gene
MDM1
Gene Name
Mdm1 nuclear protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001205028.1 2132 Nonsense Mutation CGA,TGA R667* NP_001191957.1
NM_001205029.1 2132 Intron NP_001191958.1
NM_017440.4 2132 Nonsense Mutation CGA,TGA R702* NP_059136.2
NM_020128.2 2132 Intron NP_064513.1
XM_005269026.1 2132 Nonsense Mutation CGA,TGA R712* XP_005269083.1
XM_011538569.1 2132 Intron XP_011536871.1
XM_017019646.1 2132 Nonsense Mutation CGA,TGA R432* XP_016875135.1
XM_017019647.1 2132 Nonsense Mutation CGA,TGA R432* XP_016875136.1
XM_017019648.1 2132 Nonsense Mutation CGA,TGA R432* XP_016875137.1
XM_017019649.1 2132 Nonsense Mutation CGA,TGA R432* XP_016875138.1
XM_017019650.1 2132 Nonsense Mutation CGA,TGA R432* XP_016875139.1

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