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CACCTCATCGAAGTCTCCTCTCACA[A/G]TATGAACATCACCAGCCAGAGTCTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608368 MIM: 606932 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FAM216A 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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FAM216A - family with sequence similarity 216 member A | ||||||
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There are no transcripts associated with this gene. |
RAD9B - RAD9 checkpoint clamp component B | ||||||
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There are no transcripts associated with this gene. |
VPS29 - VPS29, retromer complex component | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282150.1 | 323 | Missense Mutation | ACT,ATT | T,I 90 | NP_001269079.1 | |
NM_001282151.1 | 323 | Missense Mutation | ACT,ATT | T,I 58 | NP_001269080.1 | |
NM_016226.4 | 323 | Missense Mutation | ACT,ATT | T,I 58 | NP_057310.1 | |
NM_057180.2 | 323 | Missense Mutation | ACT,ATT | T,I 62 | NP_476528.1 | |
XM_006719459.3 | 323 | Missense Mutation | ACT,ATT | T,I 59 | XP_006719522.1 | |
XM_006719460.3 | 323 | Missense Mutation | ACT,ATT | T,I 59 | XP_006719523.1 | |
XM_011538484.2 | 323 | Missense Mutation | ACT,ATT | T,I 59 | XP_011536786.1 | |
XM_017019457.1 | 323 | Missense Mutation | ACT,ATT | T,I 90 | XP_016874946.1 | |
XM_017019458.1 | 323 | Missense Mutation | ACT,ATT | T,I 59 | XP_016874947.1 | |
XM_017019459.1 | 323 | Missense Mutation | ACT,ATT | T,I 90 | XP_016874948.1 |