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AAACTCAAGCTGATGCTTCAAAAAC[A/G]AGAAGGTAAATATACCCCAAATGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611752 | ||||||||||||||||||||
Literature Links: |
C2orf40 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 |
C2orf40 - chromosome 2 open reading frame 40 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032411.2 | 167 | Missense Mutation | CAA,CGA | Q,R 41 | NP_115787.1 | |
XM_006712799.3 | 167 | Missense Mutation | CAA,CGA | Q,R 5 | XP_006712862.1 | |
XM_011511993.2 | 167 | Missense Mutation | CAA,CGA | Q,R 5 | XP_011510295.1 | |
XM_017005106.1 | 167 | Missense Mutation | CAA,CGA | Q,R 43 | XP_016860595.1 |