Product Details

SNP ID
rs199576799
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:102879813 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACATCATACCAGGCTGCTGACTGA[A/T]GACAGTGGTAGGTGAAATTTTGCCG
Phenotype
MIM: 120280
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
COL11A1 PubMed Links

Gene Details

Gene
COL11A1
Gene Name
collagen type XI alpha 1 chain
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001190709.1 5462 Missense Mutation CAT,CTT H1676L NP_001177638.1
NM_001854.3 5462 Missense Mutation CAT,CTT H1715L NP_001845.3
NM_080629.2 5462 Missense Mutation CAT,CTT H1727L NP_542196.2
NM_080630.3 5462 Missense Mutation CAT,CTT H1599L NP_542197.3
XM_017000334.1 5462 Missense Mutation CAT,CTT H1766L XP_016855823.1
XM_017000335.1 5462 Missense Mutation CAT,CTT H1764L XP_016855824.1
XM_017000336.1 5462 Intron XP_016855825.1
XM_017000337.1 5462 Missense Mutation CAT,CTT H1232L XP_016855826.1

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