Product Details

SNP ID
rs139595218
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:119915586 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGGGGTGTGGGGTACTTGCCCACA[A/G]AGGCTGGGAAAGGATGATAGGCTGG
Phenotype
MIM: 600275
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NOTCH2 PubMed Links

Gene Details

Gene
NOTCH2
Gene Name
notch 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001200001.1 7433 Intron NP_001186930.1
NM_024408.3 7433 Missense Mutation TCT,TTT S2379F NP_077719.2
XM_005270901.3 7433 Missense Mutation TCT,TTT S2340F XP_005270958.1
XM_011541519.2 7433 Missense Mutation TCT,TTT S2375F XP_011539821.1
XM_011541520.2 7433 Missense Mutation TCT,TTT S2340F XP_011539822.1
XM_017001372.1 7433 Missense Mutation TCT,TTT S2363F XP_016856861.1
XM_017001373.1 7433 Missense Mutation TCT,TTT S2340F XP_016856862.1

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