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GCTTTTGCTGGCAAGTTCATGACAA[C/T]GTGCACAGAGGGTTTTCTTTCTTTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602659 MIM: 616518 MIM: 611023 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MNAT1 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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MNAT1 - MNAT1, CDK activating kinase assembly factor | ||||||
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There are no transcripts associated with this gene. |
SLC38A6 - solute carrier family 38 member 6 | ||||||
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There are no transcripts associated with this gene. |
TRMT5 - tRNA methyltransferase 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020810.3 | 1347 | Missense Mutation | ATT,GTT | I,V 384 | NP_065861.3 | |
XM_005267916.3 | 1347 | Missense Mutation | ATT,GTT | I,V 412 | XP_005267973.2 | |
XM_011537017.2 | 1347 | Missense Mutation | ATT,GTT | I,V 411 | XP_011535319.1 |