Product Details

SNP ID
rs1129748
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:59430963 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GTAAGAAAAATAACTTTGTTATTAA[G/T]CATATACAATCATAACAAAAGTACA
Phenotype
MIM: 612753
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CCBE1 PubMed Links

Gene Details

Gene
CCBE1
Gene Name
collagen and calcium binding EGF domains 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_133459.3 6236 UTR 3 NP_597716.1
XM_017025556.1 6236 Intron XP_016881045.1
XM_017025557.1 6236 Intron XP_016881046.1
XM_017025558.1 6236 Intron XP_016881047.1

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