Product Details

SNP ID
rs201850688
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:572671 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGTTCGTGCTGCTGGGATTCGCG[C/G]TGCTGGGCACCCACGGAGCCTCCGG
Phenotype
MIM: 109480
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
BSG PubMed Links

Gene Details

Gene
BSG
Gene Name
basigin (Ok blood group)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001322243.1 218 Missense Mutation CTG,GTG L13V NP_001309172.1
NM_001728.3 218 Missense Mutation CTG,GTG L13V NP_001719.2
NM_198589.2 218 Missense Mutation CTG,GTG L13V NP_940991.1
NM_198590.2 218 Intron NP_940992.1
NM_198591.2 218 Intron NP_940993.1
XM_017027173.1 218 Missense Mutation CTG,GTG L13V XP_016882662.1

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