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TAGTAGGTTTGAATGAGAGTTCTTG[G/T]CATGGACTTAAAATAGAACTTTTGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602338 | ||||||||||||||||||||
Literature Links: |
FAM217A PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
FAM217A - family with sequence similarity 217 member A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_173563.2 | 1858 | Nonsense Mutation | TGA,TGC | *,C 411 | NP_775834.2 | |
XM_005248951.3 | 1858 | Nonsense Mutation | TGA,TGC | *,C 402 | XP_005249008.1 | |
XM_006715025.2 | 1858 | Nonsense Mutation | TGA,TGC | *,C 348 | XP_006715088.1 | |
XM_006715026.3 | 1858 | Nonsense Mutation | TGA,TGC | *,C 348 | XP_006715089.1 | |
XM_011514413.2 | 1858 | Nonsense Mutation | TGA,TGC | *,C 348 | XP_011512715.1 | |
XM_011514414.2 | 1858 | Nonsense Mutation | TGA,TGC | *,C 348 | XP_011512716.1 | |
XM_011514415.1 | 1858 | Nonsense Mutation | TGA,TGC | *,C 401 | XP_011512717.1 | |
XM_011514416.2 | 1858 | Nonsense Mutation | TGA,TGC | *,C 398 | XP_011512718.1 | |
XM_011514417.1 | 1858 | Nonsense Mutation | TGA,TGC | *,C 363 | XP_011512719.1 | |
XM_017010480.1 | 1858 | Nonsense Mutation | TGA,TGC | *,C 431 | XP_016865969.1 | |
XM_017010481.1 | 1858 | Nonsense Mutation | TGA,TGC | *,C 402 | XP_016865970.1 | |
XM_017010482.1 | 1858 | Nonsense Mutation | TGA,TGC | *,C 348 | XP_016865971.1 |
PRPF4B - pre-mRNA processing factor 4B | ||||||
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There are no transcripts associated with this gene. |