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TTTCCTGCATTGGGGGTAGTAGTTG[C/T]GGAAGTACTTTTTGGTAGAGGAAAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
15 submissions
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Phenotype: |
MIM: 616836 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GPATCH2 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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GPATCH2 - G-patch domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001297754.1 | 1851 | Intron | NP_001284683.1 | |||
NM_018040.3 | 1851 | Missense Mutation | ACA,GCA | T,A 518 | NP_060510.1 | |
XM_011509689.2 | 1851 | Missense Mutation | ACA,GCA | T,A 541 | XP_011507991.1 | |
XM_011509690.2 | 1851 | Missense Mutation | ACA,GCA | T,A 504 | XP_011507992.1 | |
XM_011509691.2 | 1851 | Missense Mutation | ACA,GCA | T,A 480 | XP_011507993.1 | |
XM_011509693.2 | 1851 | Intron | XP_011507995.1 | |||
XM_011509694.2 | 1851 | Intron | XP_011507996.1 | |||
XM_017001592.1 | 1851 | Missense Mutation | ACA,GCA | T,A 481 | XP_016857081.1 | |
XM_017001593.1 | 1851 | Intron | XP_016857082.1 |