Product Details

SNP ID
rs149751889
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:41577020 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGATCTCGTACCGATACTTGAGCA[C/T]GCCTCCTCCTGGTGCAGAAAGAAAC
Phenotype
MIM: 601786
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CSDC2 PubMed Links

Gene Details

Gene
CSDC2
Gene Name
cold shock domain containing C2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014460.3 1020 Intron NP_055275.1
Gene
PMM1
Gene Name
phosphomannomutase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002676.2 1020 UTR 3 NP_002667.2
XM_005261638.4 1020 UTR 3 XP_005261695.1
XM_011530229.1 1020 UTR 3 XP_011528531.1
XM_011530230.2 1020 UTR 3 XP_011528532.1
XM_011530231.2 1020 UTR 3 XP_011528533.1
XM_011530232.1 1020 UTR 3 XP_011528534.1

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