Product Details

SNP ID
rs61752496
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18782922 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTCCTCACCCTGGTCCCTAGGCT[C/T]GCCGCAGCTGATGGGTCTCATAGTC
Phenotype
MIM: 600310 MIM: 607536
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COMP PubMed Links

Gene Details

Gene
COMP
Gene Name
cartilage oligomeric matrix protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000095.2 2303 Missense Mutation CAA,CGA Q756R NP_000086.2
Gene
CRTC1
Gene Name
CREB regulated transcription coactivator 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098482.1 2303 Intron NP_001091952.1
NM_015321.2 2303 Intron NP_056136.2
XM_005259833.3 2303 Intron XP_005259890.1
XM_005259834.1 2303 Intron XP_005259891.1
XM_005259835.3 2303 Intron XP_005259892.1
XM_005259836.3 2303 Intron XP_005259893.1
XM_006722710.3 2303 Intron XP_006722773.1
XM_011527842.2 2303 Intron XP_011526144.1
XM_017026536.1 2303 Intron XP_016882025.1
XM_017026537.1 2303 Intron XP_016882026.1
XM_017026538.1 2303 Intron XP_016882027.1

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