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TGAATTCAGATGTCTTTCCCACAGT[C/T]GGGGCACAGGATGTCGTCCCTCTCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602633 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C2orf49 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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C2orf49 - chromosome 2 open reading frame 49 | ||||||
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There are no transcripts associated with this gene. |
FHL2 - four and a half LIM domains 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039492.2 | 1044 | Missense Mutation | AAC,GAC | N,D 274 | NP_001034581.1 | |
NM_001318894.1 | 1044 | Missense Mutation | AAC,GAC | N,D 274 | NP_001305823.1 | |
NM_001318895.1 | 1044 | Missense Mutation | AAC,GAC | N,D 274 | NP_001305824.1 | |
NM_001318896.1 | 1044 | Missense Mutation | AAC,GAC | N,D 274 | NP_001305825.1 | |
NM_001318897.1 | 1044 | Missense Mutation | AAC,GAC | N,D 160 | NP_001305826.1 | |
NM_001318898.1 | 1044 | Missense Mutation | AAC,GAC | N,D 160 | NP_001305827.1 | |
NM_001318899.1 | 1044 | Missense Mutation | AAC,GAC | N,D 166 | NP_001305828.1 | |
NM_001450.3 | 1044 | Missense Mutation | AAC,GAC | N,D 274 | NP_001441.4 | |
NM_201555.1 | 1044 | Missense Mutation | AAC,GAC | N,D 274 | NP_963849.1 | |
NM_201557.3 | 1044 | Missense Mutation | AAC,GAC | N,D 274 | NP_963851.2 | |
XM_011510798.2 | 1044 | Missense Mutation | AAC,GAC | N,D 274 | XP_011509100.1 |