Product Details

SNP ID
rs1975916
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:102878027 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTCTTTGTCTTAATCTTAGCCAA[A/G]AAAACAAACAGGACCAACTTCAAAT
Phenotype
MIM: 120280
Polymorphism
A/G, Transition 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 5731 Missense Mutation CTT,TTT L1766F NP_001177638.1
NM_001854.3 5731 Missense Mutation CTT,TTT L1805F NP_001845.3
NM_080629.2 5731 Missense Mutation CTT,TTT L1817F NP_542196.2
NM_080630.3 5731 Missense Mutation CTT,TTT L1689F NP_542197.3
XM_017000334.1 5731 Missense Mutation CTT,TTT L1856F XP_016855823.1
XM_017000335.1 5731 Missense Mutation CTT,TTT L1854F XP_016855824.1
XM_017000336.1 5731 Intron XP_016855825.1
XM_017000337.1 5731 Missense Mutation CTT,TTT L1322F XP_016855826.1

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