Product Details

SNP ID

rs138514564

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:45293781 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCGTGGCCCTCACTTCTGGTTGG[C/T]CAGCTGGTTCTCCAGATCCTCCAGG

Phenotype

MIM: 603897

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

MATN4 PubMed Links

Additional Information

For this assay, SNP(s) [rs2233107] 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

MATN4

Gene Name

matrilin 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003833.4	1994	Missense Mutation	ACC,GCC	T578A	NP_003824.2
NM_030590.3	1994	Missense Mutation	ACC,GCC	T537A	NP_085080.1
NM_030592.3	1994	Missense Mutation	ACC,GCC	T496A	NP_085095.1
XM_005260597.1	1994	Missense Mutation	ACC,GCC	T578A	XP_005260654.1
XM_017028113.1	1994	UTR 3			XP_016883602.1
XM_017028114.1	1994	UTR 3			XP_016883603.1
XM_017028115.1	1994	UTR 3			XP_016883604.1

View Full Product Details