Product Details

SNP ID

rs200098419

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.10:69802659 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGGTGCTGCGCCTGGAAGCGGAGC[G/T]CGGGGAGCAGCAAATGGAGACGGCT

Phenotype

MIM: 120350

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

COL13A1 PubMed Links

Additional Information

For this assay, SNP(s) [rs10998973] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

COL13A1

Gene Name

collagen type XIII alpha 1 chain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130103.1	153	Missense Mutation	CGC,CTC	R79L	NP_001123575.1
NM_001320951.1	153	Missense Mutation	CGC,CTC	R79L	NP_001307880.1
NM_080798.3	153	Missense Mutation	CGC,CTC	R79L	NP_542988.3
NM_080800.3	153	Missense Mutation	CGC,CTC	R79L	NP_542990.3
NM_080801.3	153	Missense Mutation	CGC,CTC	R79L	NP_542991.3
NM_080802.3	153	Missense Mutation	CGC,CTC	R79L	NP_542992.3
NM_080805.3	153	Missense Mutation	CGC,CTC	R79L	NP_542995.3
XM_011539292.2	153	Missense Mutation	CGC,CTC	R79L	XP_011537594.1
XM_011539293.2	153	Missense Mutation	CGC,CTC	R79L	XP_011537595.1
XM_011539294.2	153	Missense Mutation	CGC,CTC	R79L	XP_011537596.1
XM_011539295.2	153	Missense Mutation	CGC,CTC	R79L	XP_011537597.1
XM_017015676.1	153	Missense Mutation	CGC,CTC	R79L	XP_016871165.1
XM_017015677.1	153	Missense Mutation	CGC,CTC	R79L	XP_016871166.1
XM_017015678.1	153	Missense Mutation	CGC,CTC	R79L	XP_016871167.1
XM_017015679.1	153	Missense Mutation	CGC,CTC	R79L	XP_016871168.1
XM_017015680.1	153	Missense Mutation	CGC,CTC	R79L	XP_016871169.1
XM_017015681.1	153	Missense Mutation	CGC,CTC	R79L	XP_016871170.1
XM_017015682.1	153	Missense Mutation	CGC,CTC	R79L	XP_016871171.1
XM_017015683.1	153	Missense Mutation	CGC,CTC	R79L	XP_016871172.1
XM_017015684.1	153	Missense Mutation	CGC,CTC	R79L	XP_016871173.1
XM_017015685.1	153	Missense Mutation	CGC,CTC	R79L	XP_016871174.1
XM_017015686.1	153	Missense Mutation	CGC,CTC	R79L	XP_016871175.1
XM_017015687.1	153	Missense Mutation	CGC,CTC	R79L	XP_016871176.1
XM_017015688.1	153	Missense Mutation	CGC,CTC	R79L	XP_016871177.1
XM_017015689.1	153	Missense Mutation	CGC,CTC	R79L	XP_016871178.1
XM_017015690.1	153	Missense Mutation	CGC,CTC	R79L	XP_016871179.1
XM_017015691.1	153	Missense Mutation	CGC,CTC	R79L	XP_016871180.1
XM_017015692.1	153	Missense Mutation	CGC,CTC	R79L	XP_016871181.1
XM_017015693.1	153	Missense Mutation	CGC,CTC	R79L	XP_016871182.1
XM_017015694.1	153	Missense Mutation	CGC,CTC	R79L	XP_016871183.1
XM_017015695.1	153	Missense Mutation	CGC,CTC	R79L	XP_016871184.1
XM_017015696.1	153	Intron			XP_016871185.1
XM_017015697.1	153	UTR 5			XP_016871186.1

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