Product Details

SNP ID
rs4268274
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:2719678 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTTTAGGGGATGACTTTGACTTA[G/T]GAGATGCTGTTGTTGATGGAGAAAA
Phenotype
MIM: 313470 MIM: 450000
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CD99 PubMed Links

Gene Details

Gene
CD99
Gene Name
CD99 molecule
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001122898.2 394 Nonsense Mutation GGA,TGA G40* NP_001116370.1
NM_001321367.1 394 Nonsense Mutation GGA,TGA G56* NP_001308296.1
NM_001321368.1 394 Nonsense Mutation GGA,TGA G56* NP_001308297.1
NM_001321369.1 394 Nonsense Mutation GGA,TGA G40* NP_001308298.1
NM_001321370.1 394 Nonsense Mutation GGA,TGA G56* NP_001308299.1
NM_002414.4 394 Nonsense Mutation GGA,TGA G56* NP_002405.1

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