Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTTCTGTCATTCAAAGTTCTGACCA[C/T]GGTTGTAGCTGGCGACTGAAGCACT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610316 | ||||||||||||||||||||
Literature Links: |
PNPT1 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 |
PNPT1 - polyribonucleotide nucleotidyltransferase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_033109.4 | 2362 | Missense Mutation | NP_149100.2 | |||
XM_005264629.2 | 2362 | Intron | XP_005264686.1 | |||
XM_017005172.1 | 2362 | Intron | XP_016860661.1 |