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GCTGCTGCCAAACTGGAAAGCCGAA[C/G]CTGCAATAGTTAAAGCAGAAATACT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603948 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FAM8A1 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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FAM8A1 - family with sequence similarity 8 member A1 | ||||||
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There are no transcripts associated with this gene. |
NUP153 - nucleoporin 153 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278209.1 | 4715 | Missense Mutation | ACT,AGT | T,S 1423 | NP_001265138.1 | |
NM_001278210.1 | 4715 | Missense Mutation | ACT,AGT | T,S 1350 | NP_001265139.1 | |
NM_005124.3 | 4715 | Missense Mutation | ACT,AGT | T,S 1392 | NP_005115.2 | |
XM_005249507.2 | 4715 | Missense Mutation | ACT,AGT | T,S 1374 | XP_005249564.1 | |
XM_006715290.2 | 4715 | Missense Mutation | ACT,AGT | T,S 1386 | XP_006715353.1 | |
XM_006715291.3 | 4715 | Intron | XP_006715354.1 | |||
XM_011515028.2 | 4715 | Missense Mutation | ACT,AGT | T,S 1327 | XP_011513330.1 | |
XM_017011594.1 | 4715 | Missense Mutation | ACT,AGT | T,S 1368 | XP_016867083.1 |