Product Details

SNP ID

rs200829297

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:70217046 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGGGGGGCCTCGCTCACCGTCTC[C/G]GCCATTTCTGCCATAGCTGGCAGGG

Phenotype

MIM: 120165 MIM: 120210

Polymorphism

C/G, Transversion 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	2163	Missense Mutation	CGA,GGA	R873G	NP_001842.3
NM_078485.3	2163	Missense Mutation	CGA,GGA	R630G	NP_511040.2
XM_011535429.2	2163	Missense Mutation	CGA,GGA	R883G	XP_011533731.1
XM_011535430.2	2163	Missense Mutation	CGA,GGA	R640G	XP_011533732.1
XM_017010246.1	2163	Missense Mutation	CGA,GGA	R700G	XP_016865735.1
XM_017010247.1	2163	Missense Mutation	CGA,GGA	R456G	XP_016865736.1

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