Product Details

SNP ID
rs118118886
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:69876068 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGTTTCAGGAAGGAAAGAATTGT[C/T]GGCTATTGGAGGTGCCACCAAGAAT
Phenotype
MIM: 120165
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COL19A1 PubMed Links

Gene Details

Gene
COL19A1
Gene Name
collagen type XIX alpha 1 chain
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001858.5 Intron NP_001849.2
XM_011535437.2 Intron XP_011533739.1
XM_011535438.2 Intron XP_011533740.1
XM_017010253.1 Intron XP_016865742.1
XM_017010254.1 Intron XP_016865743.1
XM_017010255.1 Intron XP_016865744.1
XM_017010256.1 Intron XP_016865745.1
XM_017010257.1 Intron XP_016865746.1
XM_017010258.1 Intron XP_016865747.1
XM_017010259.1 Intron XP_016865748.1

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