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ATGAGCTGGTAAGCAATGAGGTAAC[A/T]GGTTTTCCACTACTTGTGAAATACT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
ZMAT1 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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ZMAT1 - zinc finger matrin-type 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001011657.3 | 1761 | Missense Mutation | CAG,CTG | Q,L 465 | NP_001011657.2 | |
NM_001282400.1 | 1761 | Missense Mutation | CAG,CTG | Q,L 294 | NP_001269329.1 | |
NM_001282401.1 | 1761 | Missense Mutation | CAG,CTG | Q,L 294 | NP_001269330.1 | |
XM_005262212.4 | 1761 | Missense Mutation | CAG,CTG | Q,L 545 | XP_005262269.2 | |
XM_005262213.4 | 1761 | Missense Mutation | CAG,CTG | Q,L 544 | XP_005262270.2 | |
XM_005262214.3 | 1761 | Missense Mutation | CAG,CTG | Q,L 522 | XP_005262271.2 | |
XM_005262216.4 | 1761 | Missense Mutation | CAG,CTG | Q,L 425 | XP_005262273.2 | |
XM_006724711.3 | 1761 | Missense Mutation | CAG,CTG | Q,L 294 | XP_006724774.1 | |
XM_017029903.1 | 1761 | Missense Mutation | CAG,CTG | Q,L 424 | XP_016885392.1 | |
XM_017029904.1 | 1761 | Missense Mutation | CAG,CTG | Q,L 294 | XP_016885393.1 |