Product Details

SNP ID
rs139465924
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:68295336 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCCGGAGACTAGAAGCTGCAGAG[C/T]GAGCAGAAATCTCAGACAATCTGTC
Phenotype
MIM: 613813
Polymorphism
C/T, 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 2091 Missense Mutation CAC,CGC H653R NP_001191957.1
NM_001205029.1 2091 Intron NP_001191958.1
NM_017440.4 2091 Missense Mutation CAC,CGC H688R NP_059136.2
NM_020128.2 2091 Intron NP_064513.1
XM_005269026.1 2091 Missense Mutation CAC,CGC H698R XP_005269083.1
XM_011538569.1 2091 Intron XP_011536871.1
XM_017019646.1 2091 Missense Mutation CAC,CGC H418R XP_016875135.1
XM_017019647.1 2091 Missense Mutation CAC,CGC H418R XP_016875136.1
XM_017019648.1 2091 Missense Mutation CAC,CGC H418R XP_016875137.1
XM_017019649.1 2091 Missense Mutation CAC,CGC H418R XP_016875138.1
XM_017019650.1 2091 Missense Mutation CAC,CGC H418R XP_016875139.1

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