Product Details

SNP ID
rs114734472
Assay Type
Functionally tested
NCBI dbSNP Submissions
14
Location
Chr.1:111118183 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATCAAATATCTCTGGAAAGTAGCC[A/G]TGTTCGTTCATTGTTAATAGGGCAA
Phenotype
MIM: 613360
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DRAM2 PubMed Links

Gene Details

Gene
DRAM2
Gene Name
DNA damage regulated autophagy modulator 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_178454.4 1216 Missense Mutation CGG,TGG R260W NP_848549.3
XM_005270469.2 1216 Missense Mutation CGG,TGG R260W XP_005270526.1
XM_005270470.1 1216 Missense Mutation CGG,TGG R260W XP_005270527.1
XM_006710361.1 1216 Missense Mutation CGG,TGG R170W XP_006710424.1
XM_006710362.1 1216 Missense Mutation CGG,TGG R170W XP_006710425.1
XM_011540707.1 1216 Missense Mutation CGG,TGG R260W XP_011539009.1
XM_011540708.1 1216 Missense Mutation CGG,TGG R260W XP_011539010.1
XM_017000320.1 1216 Missense Mutation CGG,TGG R170W XP_016855809.1
XM_017000321.1 1216 Missense Mutation CGG,TGG R170W XP_016855810.1

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