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CACTCCGTCCTCCAGGCCAGCTTCC[C/T]CTTGACTAGGACTCAAATTTCTCTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604212 | ||||||||||||||||||||
Literature Links: |
PARN 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 |
PARN - poly(A)-specific ribonuclease | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001134477.2 | 1784 | Missense Mutation | GAG,GGG | E,G 513 | NP_001127949.1 | |
NM_001242992.1 | 1784 | Missense Mutation | GAG,GGG | E,G 528 | NP_001229921.1 | |
NM_002582.3 | 1784 | Missense Mutation | GAG,GGG | E,G 574 | NP_002573.1 | |
XM_011522510.2 | 1784 | Intron | XP_011520812.1 | |||
XM_011522511.2 | 1784 | Intron | XP_011520813.1 | |||
XM_011522513.2 | 1784 | Intron | XP_011520815.1 | |||
XM_011522514.1 | 1784 | Intron | XP_011520816.1 | |||
XM_017023258.1 | 1784 | Intron | XP_016878747.1 | |||
XM_017023259.1 | 1784 | Intron | XP_016878748.1 | |||
XM_017023260.1 | 1784 | Intron | XP_016878749.1 |