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GAGACCATTTTAACCATTGATTGAT[C/T]TGTATGGCCAATAGTAGGTTTGAAT
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 | |||
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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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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 | 1895 | Missense Mutation | AAT,GAT | N,D 424 | NP_775834.2 | |
XM_005248951.3 | 1895 | Missense Mutation | AAT,GAT | N,D 415 | XP_005249008.1 | |
XM_006715025.2 | 1895 | Missense Mutation | AAT,GAT | N,D 361 | XP_006715088.1 | |
XM_006715026.3 | 1895 | Missense Mutation | AAT,GAT | N,D 361 | XP_006715089.1 | |
XM_011514413.2 | 1895 | Missense Mutation | AAT,GAT | N,D 361 | XP_011512715.1 | |
XM_011514414.2 | 1895 | Missense Mutation | AAT,GAT | N,D 361 | XP_011512716.1 | |
XM_011514415.1 | 1895 | Missense Mutation | AAT,GAT | N,D 414 | XP_011512717.1 | |
XM_011514416.2 | 1895 | Missense Mutation | AAT,GAT | N,D 411 | XP_011512718.1 | |
XM_011514417.1 | 1895 | Missense Mutation | AAT,GAT | N,D 376 | XP_011512719.1 | |
XM_017010480.1 | 1895 | Missense Mutation | AAT,GAT | N,D 444 | XP_016865969.1 | |
XM_017010481.1 | 1895 | Missense Mutation | AAT,GAT | N,D 415 | XP_016865970.1 | |
XM_017010482.1 | 1895 | Missense Mutation | AAT,GAT | N,D 361 | XP_016865971.1 |
PRPF4B - pre-mRNA processing factor 4B | ||||||
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There are no transcripts associated with this gene. |