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TGGGGGCGCATACCTTGAAGTACAC[C/T]GGTTCCACCTTGTGCTTGAGGGCGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608759 MIM: 610598 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CYGB 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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CYGB - cytoglobin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_134268.4 | 373 | Silent Mutation | CCA,CCG | P,P 121 | NP_599030.1 | |
XM_005257005.2 | 373 | Silent Mutation | CCA,CCG | P,P 121 | XP_005257062.1 | |
XM_017024116.1 | 373 | Silent Mutation | CCA,CCG | P,P 56 | XP_016879605.1 |
PRCD - progressive rod-cone degeneration | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001077620.2 | 373 | Intron | NP_001071088.1 | |||
XM_017025013.1 | 373 | Intron | XP_016880502.1 | |||
XM_017025014.1 | 373 | Intron | XP_016880503.1 | |||
XM_017025015.1 | 373 | Intron | XP_016880504.1 |