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CAGATGTTGCTCGGGAAGCAGATGT[C/T]GATGCAGAGATAAATCAGCCGCTGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612190 MIM: 172280 | ||||||||||||||||||||
Literature Links: |
BRICD5 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 |
BRICD5 - BRICHOS domain containing 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_182563.3 | 2928 | Missense Mutation | CAC,TAC | H,Y 210 | NP_872369.2 | |
XM_005255263.4 | 2928 | Missense Mutation | CAC,TAC | H,Y 242 | XP_005255320.1 |
MLST8 - MTOR associated protein, LST8 homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199173.1 | 2928 | Intron | NP_001186102.1 | |||
NM_001199174.1 | 2928 | Intron | NP_001186103.1 | |||
NM_001199175.1 | 2928 | Intron | NP_001186104.1 | |||
NM_022372.4 | 2928 | Intron | NP_071767.3 | |||
XM_005255475.3 | 2928 | Intron | XP_005255532.2 | |||
XM_005255478.2 | 2928 | Intron | XP_005255535.1 | |||
XM_005255479.2 | 2928 | Intron | XP_005255536.1 | |||
XM_017023548.1 | 2928 | Intron | XP_016879037.1 | |||
XM_017023549.1 | 2928 | Intron | XP_016879038.1 | |||
XM_017023550.1 | 2928 | Intron | XP_016879039.1 | |||
XM_017023551.1 | 2928 | Intron | XP_016879040.1 | |||
XM_017023552.1 | 2928 | Intron | XP_016879041.1 |
PGP - phosphoglycolate phosphatase | ||||||
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There are no transcripts associated with this gene. |