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GTGGCAGCTGCTGCAGCAGGCCGTG[A/G]AGCAAGTAGGGTGGGGTAGAGGGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614396 MIM: 607759 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GPATCH8 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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GPATCH8 - G-patch domain containing 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001002909.3 | 4504 | Missense Mutation | CCA,TCA | P,S 1469 | NP_001002909.1 | |
NM_001304939.1 | 4504 | Missense Mutation | CCA,TCA | P,S 1444 | NP_001291868.1 | |
NM_001304940.1 | 4504 | Missense Mutation | CCA,TCA | P,S 1391 | NP_001291869.1 | |
NM_001304941.1 | 4504 | Missense Mutation | CCA,TCA | P,S 1391 | NP_001291870.1 | |
NM_001304942.1 | 4504 | Missense Mutation | CCA,TCA | P,S 1391 | NP_001291871.1 | |
NM_001304943.1 | 4504 | Missense Mutation | CCA,TCA | P,S 1391 | NP_001291872.1 | |
XM_011524557.1 | 4504 | Missense Mutation | CCA,TCA | P,S 1498 | XP_011522859.1 | |
XM_011524558.1 | 4504 | Missense Mutation | CCA,TCA | P,S 1420 | XP_011522860.1 | |
XM_011524559.2 | 4504 | Missense Mutation | CCA,TCA | P,S 1420 | XP_011522861.1 | |
XM_011524561.2 | 4504 | Missense Mutation | CCA,TCA | P,S 1420 | XP_011522863.1 | |
XM_017024372.1 | 4504 | Missense Mutation | CCA,TCA | P,S 1420 | XP_016879861.1 | |
XM_017024373.1 | 4504 | Missense Mutation | CCA,TCA | P,S 1420 | XP_016879862.1 | |
XM_017024374.1 | 4504 | Missense Mutation | CCA,TCA | P,S 1420 | XP_016879863.1 | |
XM_017024375.1 | 4504 | Missense Mutation | CCA,TCA | P,S 1391 | XP_016879864.1 | |
XM_017024376.1 | 4504 | Missense Mutation | CCA,TCA | P,S 1391 | XP_016879865.1 | |
XM_017024377.1 | 4504 | Missense Mutation | CCA,TCA | P,S 1391 | XP_016879866.1 | |
XM_017024378.1 | 4504 | Missense Mutation | CCA,TCA | P,S 1391 | XP_016879867.1 | |
XM_017024379.1 | 4504 | Missense Mutation | CCA,TCA | P,S 1391 | XP_016879868.1 | |
XM_017024380.1 | 4504 | Missense Mutation | CCA,TCA | P,S 1255 | XP_016879869.1 |
ITGA2B - integrin subunit alpha 2b | ||||||
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There are no transcripts associated with this gene. |