Product Details

SNP ID
rs185107188
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:68296967 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTTGAGGTAACTGCAAATTGTTC[A/G]TCCTTGCTTTTCCCACTTAAAAAAA
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 2016 Missense Mutation ACG,ATG T628M NP_001191957.1
NM_001205029.1 2016 Intron NP_001191958.1
NM_017440.4 2016 Missense Mutation ACG,ATG T663M NP_059136.2
NM_020128.2 2016 Intron NP_064513.1
XM_005269026.1 2016 Missense Mutation ACG,ATG T673M XP_005269083.1
XM_011538569.1 2016 Intron XP_011536871.1
XM_017019646.1 2016 Missense Mutation ACG,ATG T393M XP_016875135.1
XM_017019647.1 2016 Missense Mutation ACG,ATG T393M XP_016875136.1
XM_017019648.1 2016 Missense Mutation ACG,ATG T393M XP_016875137.1
XM_017019649.1 2016 Missense Mutation ACG,ATG T393M XP_016875138.1
XM_017019650.1 2016 Missense Mutation ACG,ATG T393M XP_016875139.1

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