Product Details

SNP ID

rs2743317

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:45308291 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGCGTGCCCTAGGTGGGGACTGC[C/T]AGGCAGCTGGAGCACACAGAGGCAA

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	276	UTR 5			NP_003824.2
NM_030590.3	276	UTR 5			NP_085080.1
NM_030592.3	276	UTR 5			NP_085095.1
XM_005260597.1	276	UTR 5			XP_005260654.1
XM_017028113.1	276	UTR 5			XP_016883602.1
XM_017028114.1	276	UTR 5			XP_016883603.1
XM_017028115.1	276	UTR 5			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	276	Intron			NP_001268377.1
NM_001281449.1	276	Intron			NP_001268378.1
NM_014276.3	276	Intron			NP_055091.2
XM_011528521.2	276	Intron			XP_011526823.1
XM_011528522.2	276	Intron			XP_011526824.1
XM_011528523.2	276	Intron			XP_011526825.1

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