Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGATCAGAGATGCAGCTGCAGAGC[A/G]AAGCCGACAGGCGGAGCCTCCCGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603897 MIM: 616104 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MATN4 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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MATN4 - matrilin 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003833.4 | 353 | UTR 5 | NP_003824.2 | |||
NM_030590.3 | 353 | UTR 5 | NP_085080.1 | |||
NM_030592.3 | 353 | UTR 5 | NP_085095.1 | |||
XM_005260597.1 | 353 | UTR 5 | XP_005260654.1 | |||
XM_017028113.1 | 353 | UTR 5 | XP_016883602.1 | |||
XM_017028114.1 | 353 | UTR 5 | XP_016883603.1 | |||
XM_017028115.1 | 353 | UTR 5 | XP_016883604.1 |
RBPJL - recombination signal binding protein for immunoglobulin kappa J region like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001281448.1 | 353 | Missense Mutation | AAA,GAA | K,E 32 | NP_001268377.1 | |
NM_001281449.1 | 353 | Missense Mutation | AAA,GAA | K,E 32 | NP_001268378.1 | |
NM_014276.3 | 353 | Missense Mutation | AAA,GAA | K,E 32 | NP_055091.2 | |
XM_011528521.2 | 353 | Missense Mutation | AAA,GAA | K,E 32 | XP_011526823.1 | |
XM_011528522.2 | 353 | Missense Mutation | AAA,GAA | K,E 32 | XP_011526824.1 | |
XM_011528523.2 | 353 | Missense Mutation | AAA,GAA | K,E 32 | XP_011526825.1 |