Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGACTGGCTATAAGAAAATCGCCTG[G/T]GTCGAGACCTGCAAACATCCATAAT
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 |
---|---|---|
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 |
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 | 875 | Intron | NP_001010853.1 | |||
XM_005248661.2 | 875 | Intron | XP_005248718.1 | |||
XM_005248662.4 | 875 | Intron | XP_005248719.1 | |||
XM_011535481.2 | 875 | Intron | XP_011533783.1 | |||
XM_017010289.1 | 875 | Intron | XP_016865778.1 | |||
XM_017010290.1 | 875 | Intron | XP_016865779.1 | |||
XM_017010291.1 | 875 | 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 | 875 | Missense Mutation | CAC,CCC | H,P 142 | NP_542781.3 | |
XM_006715348.2 | 875 | Missense Mutation | CAC,CCC | H,P 47 | XP_006715411.1 | |
XM_011535483.2 | 875 | Missense Mutation | CAC,CCC | H,P 127 | XP_011533785.1 | |
XM_011535484.1 | 875 | Missense Mutation | CAC,CCC | H,P 47 | XP_011533786.1 | |
XM_017010292.1 | 875 | Missense Mutation | CAC,CCC | H,P 142 | XP_016865781.1 | |
XM_017010293.1 | 875 | Missense Mutation | CAC,CCC | H,P 47 | XP_016865782.1 |