Product Details

SNP ID: rs201719480
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.20:45309612 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCATTCTGAGGGGAGGCGTGCGCAG[A/G]TGCCTGCAGCAACAGTGTGAACAGA
Phenotype: MIM: 603897 MIM: 616104
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: MATN4 PubMed Links

Gene Details

Gene: MATN4
Gene Name: matrilin 4

There are no transcripts associated with this gene.

Gene: RBPJL
Gene Name: recombination signal binding protein for immunoglobulin kappa J region like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001281448.1	257	Silent Mutation	AGA,AGG	R59R	NP_001268377.1
NM_001281449.1	257	Silent Mutation	AGA,AGG	R59R	NP_001268378.1
NM_014276.3	257	Silent Mutation	AGA,AGG	R59R	NP_055091.2
XM_011528521.2	257	Silent Mutation	AGA,AGG	R59R	XP_011526823.1
XM_011528522.2	257	Silent Mutation	AGA,AGG	R59R	XP_011526824.1
XM_011528523.2	257	Silent Mutation	AGA,AGG	R59R	XP_011526825.1

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