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GCACCTCCAGGCTCCGCAGCACTAC[C/T]CCGATGCCAACCACAAGCCAGAGAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 154550 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FAM219B 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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FAM219B - family with sequence similarity 219 member B | ||||||
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There are no transcripts associated with this gene. |
MPI - mannose phosphate isomerase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001289155.1 | 323 | Missense Mutation | CCC,TCC | P,S 130 | NP_001276084.1 | |
NM_001289156.1 | 323 | Missense Mutation | CCC,TCC | P,S 80 | NP_001276085.1 | |
NM_001289157.1 | 323 | Missense Mutation | CCC,TCC | P,S 130 | NP_001276086.1 | |
NM_002435.2 | 323 | Missense Mutation | CCC,TCC | P,S 130 | NP_002426.1 | |
XM_011521592.1 | 323 | Missense Mutation | CCC,TCC | P,S 126 | XP_011519894.1 | |
XM_011521593.2 | 323 | Missense Mutation | CCC,TCC | P,S 110 | XP_011519895.1 | |
XM_017022207.1 | 323 | Missense Mutation | CCC,TCC | P,S 126 | XP_016877696.1 | |
XM_017022208.1 | 323 | Missense Mutation | CCC,TCC | P,S 110 | XP_016877697.1 | |
XM_017022209.1 | 323 | Missense Mutation | CCC,TCC | P,S 80 | XP_016877698.1 |