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GAGGAACTCACATCCAGGATGGGGC[C/T]GTTGCAGTAGTAGCAGCGCGGGGAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602505 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PXN 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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PXN - paxillin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001080855.2 | 2087 | Missense Mutation | AGC,GGC | S,G 422 | NP_001074324.1 | |
NM_001243756.1 | 2087 | Missense Mutation | AGC,GGC | S,G 436 | NP_001230685.1 | |
NM_002859.3 | 2087 | Missense Mutation | AGC,GGC | S,G 388 | NP_002850.2 | |
NM_025157.4 | 2087 | Missense Mutation | AGC,GGC | S,G 255 | NP_079433.3 | |
XM_005253917.3 | 2087 | Missense Mutation | AGC,GGC | S,G 234 | XP_005253974.1 | |
XM_006719532.1 | 2087 | Missense Mutation | AGC,GGC | S,G 960 | XP_006719595.1 | |
XM_006719534.1 | 2087 | Missense Mutation | AGC,GGC | S,G 827 | XP_006719597.1 | |
XM_006719535.3 | 2087 | Missense Mutation | AGC,GGC | S,G 827 | XP_006719598.1 | |
XM_006719536.2 | 2087 | Missense Mutation | AGC,GGC | S,G 827 | XP_006719599.1 | |
XM_011538622.1 | 2087 | Missense Mutation | AGC,GGC | S,G 827 | XP_011536924.1 | |
XM_011538623.1 | 2087 | Missense Mutation | AGC,GGC | S,G 827 | XP_011536925.1 | |
XM_017019726.1 | 2087 | Missense Mutation | AGC,GGC | S,G 966 | XP_016875215.1 | |
XM_017019727.1 | 2087 | Missense Mutation | AGC,GGC | S,G 961 | XP_016875216.1 | |
XM_017019728.1 | 2087 | Missense Mutation | AGC,GGC | S,G 958 | XP_016875217.1 | |
XM_017019729.1 | 2087 | Missense Mutation | AGC,GGC | S,G 918 | XP_016875218.1 | |
XM_017019730.1 | 2087 | Missense Mutation | AGC,GGC | S,G 966 | XP_016875219.1 | |
XM_017019731.1 | 2087 | Missense Mutation | AGC,GGC | S,G 827 | XP_016875220.1 | |
XM_017019732.1 | 2087 | Intron | XP_016875221.1 | |||
XM_017019733.1 | 2087 | Missense Mutation | AGC,GGC | S,G 771 | XP_016875222.1 | |
XM_017019734.1 | 2087 | Missense Mutation | AGC,GGC | S,G 719 | XP_016875223.1 | |
XM_017019735.1 | 2087 | Missense Mutation | AGC,GGC | S,G 689 | XP_016875224.1 | |
XM_017019736.1 | 2087 | Missense Mutation | AGC,GGC | S,G 579 | XP_016875225.1 | |
XM_017019737.1 | 2087 | Missense Mutation | AGC,GGC | S,G 531 | XP_016875226.1 | |
XM_017019738.1 | 2087 | Missense Mutation | AGC,GGC | S,G 476 | XP_016875227.1 | |
XM_017019739.1 | 2087 | Missense Mutation | AGC,GGC | S,G 442 | XP_016875228.1 | |
XM_017019740.1 | 2087 | Missense Mutation | AGC,GGC | S,G 428 | XP_016875229.1 | |
XM_017019741.1 | 2087 | Missense Mutation | AGC,GGC | S,G 420 | XP_016875230.1 | |
XM_017019742.1 | 2087 | Missense Mutation | AGC,GGC | S,G 394 | XP_016875231.1 | |
XM_017019743.1 | 2087 | Missense Mutation | AGC,GGC | S,G 255 | XP_016875232.1 |
PXN-AS1 - PXN antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |