Product Details

SNP ID
rs181171068
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:204526376 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTATATCAGGTACGACCAAAACTGC[C/T]GCTTTTGAAGATTTTGCATGCAGCA
Phenotype
MIM: 602704
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MDM4 PubMed Links

Gene Details

Gene
MDM4
Gene Name
MDM4, p53 regulator
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001204171.1 260 Missense Mutation CCG,CTG P32L NP_001191100.1
NM_001204172.1 260 Intron NP_001191101.1
NM_001278516.1 260 Missense Mutation CCG,CTG P32L NP_001265445.1
NM_001278517.1 260 Intron NP_001265446.1
NM_001278518.1 260 Missense Mutation CCG,CTG P32L NP_001265447.1
NM_001278519.1 260 Missense Mutation CCG,CTG P32L NP_001265448.1
NM_002393.4 260 Missense Mutation CCG,CTG P32L NP_002384.2
XM_017001311.1 260 Missense Mutation CCG,CTG P50L XP_016856800.1
XM_017001312.1 260 Missense Mutation CCG,CTG P50L XP_016856801.1
XM_017001313.1 260 Missense Mutation CCG,CTG P50L XP_016856802.1

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