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GCCCGCCGGCGCCAACAGCATCAGA[C/G]CTACTCGTGAGCCCCTGGGTCACCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612331 MIM: 603144 MIM: 180740 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C19orf73 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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C19orf73 - chromosome 19 open reading frame 73 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018111.2 | 499 | Intron | NP_060581.2 |
LIN7B - lin-7 homolog B, crumbs cell polarity complex component | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308419.1 | 499 | Missense Mutation | ACC,AGC | T,S 129 | NP_001295348.1 | |
NM_022165.2 | 499 | Missense Mutation | ACC,AGC | T,S 199 | NP_071448.1 | |
XM_006723323.3 | 499 | Missense Mutation | ACC,AGC | T,S 175 | XP_006723386.1 | |
XM_017027131.1 | 499 | UTR 3 | XP_016882620.1 |
PPFIA3 - PTPRF interacting protein alpha 3 | ||||||
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There are no transcripts associated with this gene. |
SNRNP70 - small nuclear ribonucleoprotein U1 subunit 70 | ||||||
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There are no transcripts associated with this gene. |