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GCAGGCCCTGCACATACAGCGGCTG[C/T]GCCCCAAACCTGAAGCCAGGCCCCG
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 |
---|---|---|
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 |
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 | 294 | Missense Mutation | CGC,TGC | R,C 21 | NP_001191087.1 | |
NM_001204159.2 | 294 | Missense Mutation | CGC,TGC | R,C 80 | NP_001191088.1 | |
NM_001204160.2 | 294 | Missense Mutation | CGC,TGC | R,C 44 | NP_001191089.1 | |
NM_001243876.1 | 294 | Intron | NP_001230805.1 | |||
NM_020126.4 | 294 | Missense Mutation | CGC,TGC | R,C 80 | NP_064511.2 | |
XM_006723292.1 | 294 | Missense Mutation | CGC,TGC | R,C 44 | XP_006723355.1 | |
XM_011527133.1 | 294 | Missense Mutation | CGC,TGC | R,C 80 | XP_011525435.1 | |
XM_011527134.1 | 294 | Missense Mutation | CGC,TGC | R,C 44 | XP_011525436.1 | |
XM_017027008.1 | 294 | Missense Mutation | CGC,TGC | R,C 142 | XP_016882497.1 | |
XM_017027009.1 | 294 | Intron | XP_016882498.1 | |||
XM_017027010.1 | 294 | Missense Mutation | CGC,TGC | R,C 80 | XP_016882499.1 |