Product Details

SNP ID

rs199845159

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:70216987 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAAACCGGGAAGCCCAGGAGGTCC[C/T]GGGGGTCCAGGCACTCCAGGAATTC

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	2222	Silent Mutation	CCA,CCG	P892P	NP_001842.3
NM_078485.3	2222	Silent Mutation	CCA,CCG	P649P	NP_511040.2
XM_011535429.2	2222	Silent Mutation	CCA,CCG	P902P	XP_011533731.1
XM_011535430.2	2222	Silent Mutation	CCA,CCG	P659P	XP_011533732.1
XM_017010246.1	2222	Silent Mutation	CCA,CCG	P719P	XP_016865735.1
XM_017010247.1	2222	Silent Mutation	CCA,CCG	P475P	XP_016865736.1

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