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CCACCGCCACTGGCTGCCAGCACCC[C/T]GCTCCTCCATGGCGAGTTTGGCTCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 124097 MIM: 604179 MIM: 607092 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DBP 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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DBP - D-box binding PAR bZIP transcription factor | ||||||
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There are no transcripts associated with this gene. |
RPL18 - ribosomal protein L18 | ||||||
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There are no transcripts associated with this gene. |
SPHK2 - sphingosine kinase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001204158.2 | 202 | Intron | NP_001191087.1 | |||
NM_001204159.2 | 202 | Missense Mutation | CCG,CTG | P,L 49 | NP_001191088.1 | |
NM_001204160.2 | 202 | Missense Mutation | CCG,CTG | P,L 13 | NP_001191089.1 | |
NM_001243876.1 | 202 | Intron | NP_001230805.1 | |||
NM_020126.4 | 202 | Missense Mutation | CCG,CTG | P,L 49 | NP_064511.2 | |
XM_006723292.1 | 202 | Missense Mutation | CCG,CTG | P,L 13 | XP_006723355.1 | |
XM_011527133.1 | 202 | Missense Mutation | CCG,CTG | P,L 49 | XP_011525435.1 | |
XM_011527134.1 | 202 | Missense Mutation | CCG,CTG | P,L 13 | XP_011525436.1 | |
XM_017027008.1 | 202 | Missense Mutation | CCG,CTG | P,L 111 | XP_016882497.1 | |
XM_017027009.1 | 202 | Intron | XP_016882498.1 | |||
XM_017027010.1 | 202 | Missense Mutation | CCG,CTG | P,L 49 | XP_016882499.1 |