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GTCCGTCAGCTGCAGGTTGCTCTCC[C/T]GGACCTGGTCGTAGTCCCACAGCTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606476 MIM: 182285 | ||||||||||||||||||||
Literature Links: |
C19orf54 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 |
C19orf54 - chromosome 19 open reading frame 54 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_198476.3 | 940 | Missense Mutation | CAG,CGG | Q,R 306 | NP_940878.3 | |
XM_005258776.4 | 940 | Missense Mutation | AGG,GGG | R,G 303 | XP_005258833.1 | |
XM_005258778.4 | 940 | Missense Mutation | CAG,CGG | Q,R 134 | XP_005258835.1 | |
XM_006723152.2 | 940 | Missense Mutation | AGG,GGG | R,G 303 | XP_006723215.1 | |
XM_006723153.2 | 940 | Missense Mutation | AGG,GGG | R,G 303 | XP_006723216.1 | |
XM_011526774.2 | 940 | Missense Mutation | CAG,CGG | Q,R 306 | XP_011525076.1 | |
XM_011526775.1 | 940 | Missense Mutation | CAG,CGG | Q,R 306 | XP_011525077.1 | |
XM_011526776.2 | 940 | Intron | XP_011525078.1 | |||
XM_011526777.2 | 940 | Missense Mutation | CAG,CGG | Q,R 306 | XP_011525079.1 | |
XM_011526778.2 | 940 | Intron | XP_011525080.1 | |||
XM_011526779.2 | 940 | Intron | XP_011525081.1 | |||
XM_011526782.2 | 940 | Intron | XP_011525084.1 | |||
XM_011526783.2 | 940 | Intron | XP_011525085.1 | |||
XM_011526784.2 | 940 | Missense Mutation | CAG,CGG | Q,R 168 | XP_011525086.1 | |
XM_011526785.2 | 940 | Missense Mutation | CAG,CGG | Q,R 134 | XP_011525087.1 | |
XM_011526786.2 | 940 | Intron | XP_011525088.1 | |||
XM_017026620.1 | 940 | Intron | XP_016882109.1 | |||
XM_017026621.1 | 940 | Missense Mutation | CAG,CGG | Q,R 306 | XP_016882110.1 | |
XM_017026622.1 | 940 | Intron | XP_016882111.1 | |||
XM_017026623.1 | 940 | Intron | XP_016882112.1 | |||
XM_017026624.1 | 940 | Missense Mutation | CAG,CGG | Q,R 168 | XP_016882113.1 | |
XM_017026625.1 | 940 | Intron | XP_016882114.1 | |||
XM_017026626.1 | 940 | Missense Mutation | CAG,CGG | Q,R 168 | XP_016882115.1 | |
XM_017026627.1 | 940 | Missense Mutation | CAG,CGG | Q,R 134 | XP_016882116.1 |
ITPKC - inositol-trisphosphate 3-kinase C | ||||||
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There are no transcripts associated with this gene. |
SNRPA - small nuclear ribonucleoprotein polypeptide A | ||||||
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There are no transcripts associated with this gene. |