Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AAGGTGGTGCGTCTCTCAGGGACTG[G/T]CTGCAGCAGCCCAGACACAAGGCTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615393 MIM: 607505 | ||||||||||||||||||||
Literature Links: |
MTERF4 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
MTERF4 - mitochondrial transcription termination factor 4 | ||||||
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There are no transcripts associated with this gene. |
PASK - PAS domain containing serine/threonine kinase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001252119.1 | 3995 | Missense Mutation | ACA,CCA | T,P 1241 | NP_001239048.1 | |
NM_001252120.1 | 3995 | Missense Mutation | ACA,CCA | T,P 1234 | NP_001239049.1 | |
NM_001252122.1 | 3995 | Missense Mutation | ACA,CCA | T,P 1199 | NP_001239051.1 | |
NM_001252124.1 | 3995 | Intron | NP_001239053.1 | |||
NM_015148.3 | 3995 | Missense Mutation | ACA,CCA | T,P 1234 | NP_055963.2 | |
XM_005246991.1 | 3995 | Missense Mutation | ACA,CCA | T,P 1018 | XP_005247048.1 | |
XM_011510826.1 | 3995 | Missense Mutation | ACA,CCA | T,P 1266 | XP_011509128.1 | |
XM_011510828.1 | 3995 | Missense Mutation | ACA,CCA | T,P 1241 | XP_011509130.1 | |
XM_011510829.1 | 3995 | Missense Mutation | ACA,CCA | T,P 1241 | XP_011509131.1 | |
XM_011510830.1 | 3995 | Missense Mutation | ACA,CCA | T,P 1241 | XP_011509132.1 | |
XM_011510831.2 | 3995 | Missense Mutation | ACA,CCA | T,P 1055 | XP_011509133.1 | |
XM_011510832.2 | 3995 | Missense Mutation | ACA,CCA | T,P 1048 | XP_011509134.1 | |
XM_011510833.1 | 3995 | Missense Mutation | ACA,CCA | T,P 1025 | XP_011509135.1 | |
XM_011510834.1 | 3995 | Missense Mutation | ACA,CCA | T,P 855 | XP_011509136.1 | |
XM_011510835.1 | 3995 | Missense Mutation | ACA,CCA | T,P 784 | XP_011509137.1 | |
XM_017003634.1 | 3995 | Missense Mutation | ACA,CCA | T,P 1325 | XP_016859123.1 | |
XM_017003635.1 | 3995 | Missense Mutation | ACA,CCA | T,P 1234 | XP_016859124.1 | |
XM_017003636.1 | 3995 | Missense Mutation | ACA,CCA | T,P 1234 | XP_016859125.1 |