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AGGTGGGCTCGACTCCCACGGTGCA[G/T]TAGCCGTTGTTCTGCTCAACAAAGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 169740 MIM: 600744 | ||||||||||||||||||||
Literature Links: |
PGC 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 |
PGC - progastricsin | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001166424.1 | 1093 | Intron | NP_001159896.1 | |||
NM_002630.3 | 1093 | Nonsense Mutation | TAA,TAC | *,Y 342 | NP_002621.1 |
TFEB - transcription factor EB | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001167827.2 | 1093 | Intron | NP_001161299.2 | |||
NM_001271943.1 | 1093 | Intron | NP_001258872.1 | |||
NM_001271944.1 | 1093 | Intron | NP_001258873.1 | |||
NM_001271945.1 | 1093 | Intron | NP_001258874.1 | |||
NM_007162.2 | 1093 | Intron | NP_009093.1 | |||
XM_005249411.1 | 1093 | Intron | XP_005249468.1 | |||
XM_005249412.1 | 1093 | Intron | XP_005249469.1 | |||
XM_006715212.3 | 1093 | Intron | XP_006715275.1 | |||
XM_006715213.2 | 1093 | Intron | XP_006715276.1 | |||
XM_011514915.1 | 1093 | Intron | XP_011513217.1 | |||
XM_011514916.2 | 1093 | Intron | XP_011513218.1 |