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TCCTTCTTGTGCTTCTGGGTCTCCC[A/G]GGCGGCCAGCTCAGGGAACTCATGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608897 MIM: 616375 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LOC100507191 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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LOC100507191 - uncharacterized LOC100507191 | ||||||
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There are no transcripts associated with this gene. |
UNC13D - unc-13 homolog D | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_199242.2 | 2975 | Missense Mutation | CGG,TGG | R,W 966 | NP_954712.1 | |
XM_011524504.1 | 2975 | Missense Mutation | CGG,TGG | R,W 989 | XP_011522806.1 | |
XM_011524506.1 | 2975 | Missense Mutation | CGG,TGG | R,W 988 | XP_011522808.1 | |
XM_011524507.2 | 2975 | Missense Mutation | CGG,TGG | R,W 786 | XP_011522809.1 |
UNK - unkempt family zinc finger | ||||||
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There are no transcripts associated with this gene. |