Product Details

SNP ID
rs199615743
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:46842014 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCAAAATCCCAACAGCACCATCAA[C/T]GGAATCTAAAGATAAGGAAAATAAA
Phenotype
MIM: 611128
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MDGA2 PubMed Links

Gene Details

Gene
MDGA2
Gene Name
MAM domain containing glycosylphosphatidylinositol anchor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001113498.2 2290 Missense Mutation ATT,GTT I930V NP_001106970.3
NM_182830.4 2290 Missense Mutation ATT,GTT I701V NP_878250.2
XM_011536519.2 2290 Missense Mutation ATT,GTT I954V XP_011534821.1
XM_011536522.2 2290 Intron XP_011534824.1
XM_011536525.2 2290 Missense Mutation ATT,GTT I490V XP_011534827.1
XM_017021060.1 2290 Missense Mutation ATT,GTT I545V XP_016876549.1
XM_017021061.1 2290 Intron XP_016876550.1

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