Product Details

SNP ID
hCV192105259
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:2720410 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGATGCCAAATCCAAACCCCAACC[A/G]CCCTAGTTCCTCCGGTAAGAGTCTC
Phenotype
MIM: 313470 MIM: 450000
Polymorphism
A/G, 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_001122898.2 476 Missense Mutation CAC,CGC H67R NP_001116370.1
NM_001321367.1 476 Missense Mutation CAC,CGC H83R NP_001308296.1
NM_001321368.1 476 Missense Mutation CAC,CGC H83R NP_001308297.1
NM_001321369.1 476 Missense Mutation CAC,CGC H67R NP_001308298.1
NM_001321370.1 476 Missense Mutation CAC,CGC H83R NP_001308299.1
NM_002414.4 476 Missense Mutation CAC,CGC H83R NP_002405.1

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