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TTTCTGCTCCTGGCTGCAAGATTGC[C/T]ACTTGATGCCGCCAAACGTGAGTAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604368 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GPNMB PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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GPNMB - glycoprotein nmb | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001005340.1 | 705 | Missense Mutation | CCA,CTA | P,L 18 | NP_001005340.1 | |
NM_002510.2 | 705 | Missense Mutation | CCA,CTA | P,L 18 | NP_002501.1 | |
XM_005249578.2 | 705 | Missense Mutation | CCA,CTA | P,L 18 | XP_005249635.1 | |
XM_017011676.1 | 705 | Missense Mutation | CCA,CTA | P,L 18 | XP_016867165.1 | |
XM_017011677.1 | 705 | Missense Mutation | CCA,CTA | P,L 18 | XP_016867166.1 | |
XM_017011678.1 | 705 | Missense Mutation | CCA,CTA | P,L 18 | XP_016867167.1 |
LOC101927890 - uncharacterized LOC101927890 | ||||||
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There are no transcripts associated with this gene. |