Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCCGAAAGCTCCCCAAGTACAATAA[A/C]TGGTAAGCCTTGGGCTCCACAACCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 162080 MIM: 614095 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NRL 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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NRL - neural retina leucine zipper | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006177.3 | 809 | Intron | NP_006168.1 | |||
XM_005267708.4 | 809 | Intron | XP_005267765.1 | |||
XM_005267709.3 | 809 | Intron | XP_005267766.1 | |||
XM_005267710.3 | 809 | Intron | XP_005267767.1 | |||
XM_011536801.2 | 809 | Intron | XP_011535103.2 | |||
XM_011536802.1 | 809 | Intron | XP_011535104.1 | |||
XM_011536804.2 | 809 | Intron | XP_011535106.1 | |||
XM_011536805.2 | 809 | Intron | XP_011535107.1 | |||
XM_011536806.2 | 809 | Intron | XP_011535108.2 | |||
XM_017021350.1 | 809 | Intron | XP_016876839.1 |
PCK2 - phosphoenolpyruvate carboxykinase 2, mitochondrial | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001018073.2 | 809 | Missense Mutation | AAA,AAC | K,N 91 | NP_001018083.2 | |
NM_001291556.1 | 809 | Intron | NP_001278485.1 | |||
NM_001308054.1 | 809 | UTR 5 | NP_001294983.1 | |||
NM_004563.3 | 809 | Missense Mutation | AAA,AAC | K,N 91 | NP_004554.3 | |
XM_006720158.2 | 809 | Missense Mutation | AAA,AAC | K,N 91 | XP_006720221.1 |