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ACAGGCCCACATGGCTGCAGTGGCC[A/G]TGTGTGTGGAGCCCCCGACGGCGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611301 MIM: 606590 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FAAP100 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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FAAP100 - Fanconi anemia core complex associated protein 100 | ||||||
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There are no transcripts associated with this gene. |
NPLOC4 - NPL4 homolog, ubiquitin recognition factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017921.3 | 1411 | Missense Mutation | ACG,ATG | T,M 578 | NP_060391.2 | |
XM_011524979.1 | 1411 | Intron | XP_011523281.1 | |||
XM_011524980.1 | 1411 | Missense Mutation | CGG,TGG | R,W 603 | XP_011523282.1 | |
XM_011524981.1 | 1411 | Missense Mutation | ACG,ATG | T,M 583 | XP_011523283.1 | |
XM_011524982.2 | 1411 | Intron | XP_011523284.1 | |||
XM_017024830.1 | 1411 | Missense Mutation | CGG,TGG | R,W 377 | XP_016880319.1 |