Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTCGCATGGGCTCCGAAGCTCTGTC[C/T]CTGCGCTGATGCCCTCCTCTGCAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 603897 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MATN4 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
MATN4 - matrilin 4 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003833.4 | 1778 | Missense Mutation | GAG,GGG | E,G 533 | NP_003824.2 | |
NM_030590.3 | 1778 | Missense Mutation | GAG,GGG | E,G 492 | NP_085080.1 | |
NM_030592.3 | 1778 | Missense Mutation | GAG,GGG | E,G 451 | NP_085095.1 | |
XM_005260597.1 | 1778 | Missense Mutation | GAG,GGG | E,G 533 | XP_005260654.1 | |
XM_017028113.1 | 1778 | Missense Mutation | GAG,GGG | E,G 533 | XP_016883602.1 | |
XM_017028114.1 | 1778 | Missense Mutation | GAG,GGG | E,G 492 | XP_016883603.1 | |
XM_017028115.1 | 1778 | Missense Mutation | GAG,GGG | E,G 451 | XP_016883604.1 |