Product Details

SNP ID: rs2903781
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.20:45307570 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTGCCACCTCCCATACTTTCCTACC[C/T]GGAGATGCCTCTGGGCCCCTAAATC
Phenotype: MIM: 603897 MIM: 616104
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: MATN4 PubMed Links

Gene Details

Gene: MATN4
Gene Name: matrilin 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003833.4		Intron			NP_003824.2
NM_030590.3		Intron			NP_085080.1
NM_030592.3		Intron			NP_085095.1
XM_005260597.1		Intron			XP_005260654.1
XM_017028113.1		Intron			XP_016883602.1
XM_017028114.1		Intron			XP_016883603.1
XM_017028115.1		Intron			XP_016883604.1

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		Intron			NP_001268377.1
NM_001281449.1		Intron			NP_001268378.1
NM_014276.3		Intron			NP_055091.2
XM_011528521.2		Intron			XP_011526823.1
XM_011528522.2		Intron			XP_011526824.1
XM_011528523.2		Intron			XP_011526825.1

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