Product Details

SNP ID
rs192022847
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:33163718 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACAGGCCCCAGCAGCACCCCTCCC[C/T]GCCTCGGTGGGGCTCCCAGGTCTGA
Phenotype
MIM: 120290
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COL11A2 PubMed Links

Gene Details

Gene
COL11A2
Gene Name
collagen type XI alpha 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001163771.1 4690 Intron NP_001157243.1
NM_080679.2 4690 Missense Mutation CAG,CGG Q1617R NP_542410.2
NM_080680.2 4690 Missense Mutation CAG,CGG Q1724R NP_542411.2
NM_080681.2 4690 Missense Mutation CAG,CGG Q1638R NP_542412.2
XM_011514299.2 4690 Missense Mutation CAG,CGG Q1486R XP_011512601.1
XM_011514300.2 4690 Missense Mutation CAG,CGG Q1426R XP_011512602.1
XM_011514302.2 4690 Missense Mutation CAG,CGG Q1353R XP_011512604.1
XM_017010250.1 4690 Missense Mutation CAG,CGG Q1724R XP_016865739.1
XM_017010251.1 4690 Missense Mutation CAG,CGG Q1330R XP_016865740.1

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