Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGACTTGGACCTCTTTTGTAAGGAC[C/T]TGGACCTTGACCGTCCTCTAGAGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615913 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PM20D2 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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PM20D2 - peptidase M20 domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001010853.2 | 998 | Intron | NP_001010853.1 | |||
XM_005248661.2 | 998 | Intron | XP_005248718.1 | |||
XM_005248662.4 | 998 | Intron | XP_005248719.1 | |||
XM_011535481.2 | 998 | Intron | XP_011533783.1 | |||
XM_017010289.1 | 998 | Intron | XP_016865778.1 | |||
XM_017010290.1 | 998 | Intron | XP_016865779.1 | |||
XM_017010291.1 | 998 | Intron | XP_016865780.1 |
SRSF12 - serine and arginine rich splicing factor 12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_080743.4 | 998 | Missense Mutation | AAG,AGG | K,R 183 | NP_542781.3 | |
XM_006715348.2 | 998 | Missense Mutation | AAG,AGG | K,R 88 | XP_006715411.1 | |
XM_011535483.2 | 998 | Missense Mutation | AAG,AGG | K,R 168 | XP_011533785.1 | |
XM_011535484.1 | 998 | Missense Mutation | AAG,AGG | K,R 88 | XP_011533786.1 | |
XM_017010292.1 | 998 | Missense Mutation | AAG,AGG | K,R 183 | XP_016865781.1 | |
XM_017010293.1 | 998 | Missense Mutation | AAG,AGG | K,R 88 | XP_016865782.1 |