Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGTGCTAGGCGGGCTGCTGAGCAAG[A/G]CGCTGCTGCCCACGGCCCTCCTGCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609650 MIM: 617032 | ||||||||||||||||||||
Literature Links: |
NLRP6 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 |
NLRP6 - NLR family pyrin domain containing 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001276700.1 | 1148 | Missense Mutation | ACG,GCG | T,A 315 | NP_001263629.1 | |
NM_138329.2 | 1148 | Missense Mutation | ACG,GCG | T,A 315 | NP_612202.2 | |
XM_011519931.1 | 1148 | Missense Mutation | ACG,GCG | T,A 315 | XP_011518233.1 | |
XM_017017252.1 | 1148 | Missense Mutation | ACG,GCG | T,A 315 | XP_016872741.1 | |
XM_017017253.1 | 1148 | Missense Mutation | ACG,GCG | T,A 153 | XP_016872742.1 |
PGGHG - protein-glucosylgalactosylhydroxylysine glucosidase | ||||||
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There are no transcripts associated with this gene. |