Product Details

SNP ID
rs180706684
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:2717650 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGCAATCCCCAAGAAACCCAGTG[C/T]TGGTGAGAAGGGCTTCTTCCTAGTA
Phenotype
MIM: 313470 MIM: 450000
Polymorphism
C/T, Transition 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_001122898.2 374 Intron NP_001116370.1
NM_001321367.1 374 Missense Mutation GCT,GTT A49V NP_001308296.1
NM_001321368.1 374 Missense Mutation GCT,GTT A49V NP_001308297.1
NM_001321369.1 374 Intron NP_001308298.1
NM_001321370.1 374 Missense Mutation GCT,GTT A49V NP_001308299.1
NM_002414.4 374 Missense Mutation GCT,GTT A49V NP_002405.1

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