Product Details

SNP ID
rs329118
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:134525973 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCCGGTCCCTGCAGCGGCGCGTAG[C/T]CGAGGGCAGCGCCCGTCAGGGGGGC
Phenotype
MIM: 610515
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
JADE2 PubMed Links

Gene Details

Gene
JADE2
Gene Name
jade family PHD finger 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001289984.1 312 UTR 5 NP_001276913.1
NM_001289985.1 312 Intron NP_001276914.1
NM_001308143.1 312 Intron NP_001295072.1
NM_015288.5 312 Intron NP_056103.4
XM_005271945.1 312 UTR 5 XP_005272002.1
XM_005271946.1 312 Intron XP_005272003.1
XM_005271948.4 312 Intron XP_005272005.1
XM_011543291.2 312 Intron XP_011541593.1
XM_017009282.1 312 Intron XP_016864771.1

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