Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTGGGGACCCAAGGACTCCCTTTAC[A/G]GTTCCCGGCACCTGGCCCAGCTCAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601061 | ||||||||||||||||||||
Literature Links: |
QPCTL 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 |
QPCTL - glutaminyl-peptide cyclotransferase like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001163377.1 | 1015 | Missense Mutation | AGT,GGT | S,G 145 | NP_001156849.1 | |
NM_017659.3 | 1015 | Missense Mutation | AGT,GGT | S,G 239 | NP_060129.2 | |
XM_011527048.2 | 1015 | Intron | XP_011525350.1 | |||
XM_017026900.1 | 1015 | Missense Mutation | AGT,GGT | S,G 239 | XP_016882389.1 |
SNRPD2 - small nuclear ribonucleoprotein D2 polypeptide | ||||||
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There are no transcripts associated with this gene. |