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ATCTTGCCTTTCCCTTCAGGATTGT[G/T]TGGCTGACATGGTGACGGCAGATGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602288 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C2orf81 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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C2orf81 - chromosome 2 open reading frame 81 | ||||||
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There are no transcripts associated with this gene. |
RTKN - rhotekin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001015055.1 | 415 | Intron | NP_001015055.1 | |||
NM_001015056.1 | 415 | Intron | NP_001015056.1 | |||
NM_033046.2 | 415 | Intron | NP_149035.1 | |||
XM_005264478.2 | 415 | Intron | XP_005264535.1 | |||
XM_005264479.4 | 415 | Intron | XP_005264536.1 | |||
XM_017004635.1 | 415 | Intron | XP_016860124.1 | |||
XM_017004636.1 | 415 | Intron | XP_016860125.1 | |||
XM_017004637.1 | 415 | Intron | XP_016860126.1 | |||
XM_017004638.1 | 415 | Intron | XP_016860127.1 | |||
XM_017004639.1 | 415 | Intron | XP_016860128.1 | |||
XM_017004640.1 | 415 | Intron | XP_016860129.1 |
WDR54 - WD repeat domain 54 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320823.1 | 415 | Missense Mutation | GTG,TTG | V,L 196 | NP_001307752.1 | |
NM_001320824.1 | 415 | Missense Mutation | GTG,TTG | V,L 181 | NP_001307753.1 | |
NM_001320825.1 | 415 | Missense Mutation | GTG,TTG | V,L 129 | NP_001307754.1 | |
NM_032118.3 | 415 | Missense Mutation | GTG,TTG | V,L 181 | NP_115494.1 | |
XM_017005064.1 | 415 | Missense Mutation | GTG,TTG | V,L 129 | XP_016860553.1 |