Product Details

SNP ID
rs2838950
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.21:45506383 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CAGGCTGTCCCGTGGCTCTGCACCC[C/T]GCGTTATAAACACCAAGGTGGGATG
Phenotype
MIM: 120328 MIM: 600424
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
COL18A1 PubMed Links
Additional Information
For this assay, SNP(s) [rs112798876] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
COL18A1
Gene Name
collagen type XVIII alpha 1 chain
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_030582.3 Intron NP_085059.2
NM_130444.2 Intron NP_569711.2
NM_130445.3 Intron NP_569712.2
Gene
SLC19A1
Gene Name
solute carrier family 19 member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001205206.1 Intron NP_001192135.1
NM_001205207.1 Intron NP_001192136.1
NM_194255.2 Intron NP_919231.1
XM_005261164.3 Intron XP_005261221.1
XM_011529696.2 Intron XP_011527998.1
XM_011529698.2 Intron XP_011528000.1
XM_011529700.2 Intron XP_011528002.1
XM_011529701.2 Intron XP_011528003.1
XM_011529702.2 Intron XP_011528004.1
XM_011529703.2 Intron XP_011528005.1
XM_011529704.2 Intron XP_011528006.1
XM_011529706.2 Intron XP_011528008.1
XM_011529709.2 Intron XP_011528011.1
XM_017028443.1 Intron XP_016883932.1
XM_017028444.1 Intron XP_016883933.1
XM_017028445.1 Intron XP_016883934.1
XM_017028446.1 Intron XP_016883935.1

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