Product Details

SNP ID
rs1056921
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:70217054 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTCGCTCACCGTCTCGGCCATTT[C/T]TGCCATAGCTGGCAGGGCCTGGGTC
Phenotype
MIM: 120165 MIM: 120210
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COL19A1 PubMed Links

Gene Details

Gene
COL19A1
Gene Name
collagen type XIX alpha 1 chain
There are no transcripts associated with this gene.

Gene
COL9A1
Gene Name
collagen type IX alpha 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001851.4 2155 Missense Mutation AAA,AGA K870R NP_001842.3
NM_078485.3 2155 Missense Mutation AAA,AGA K627R NP_511040.2
XM_011535429.2 2155 Missense Mutation AAA,AGA K880R XP_011533731.1
XM_011535430.2 2155 Missense Mutation AAA,AGA K637R XP_011533732.1
XM_017010246.1 2155 Missense Mutation AAA,AGA K697R XP_016865735.1
XM_017010247.1 2155 Missense Mutation AAA,AGA K453R XP_016865736.1

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