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AGCCCGTCGCAAGCCGGAGCACCAC[C/G]ATGTAGCCTTTCCCGAAGTACCGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616864 | ||||||||||||||||||||
Literature Links: |
C17orf62 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 |
C17orf62 - chromosome 17 open reading frame 62 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001033046.3 | 540 | Missense Mutation | ATC,ATG | I,M 125 | NP_001028218.1 | |
NM_001100407.2 | 540 | Missense Mutation | ATC,ATG | I,M 125 | NP_001093877.1 | |
NM_001100408.2 | 540 | Missense Mutation | ATC,ATG | I,M 111 | NP_001093878.1 | |
NM_001193653.1 | 540 | Missense Mutation | ATC,ATG | I,M 125 | NP_001180582.1 | |
NM_001193654.1 | 540 | Missense Mutation | ATC,ATG | I,M 125 | NP_001180583.1 | |
NM_001193655.1 | 540 | Missense Mutation | ATC,ATG | I,M 125 | NP_001180584.1 | |
NM_001193657.1 | 540 | Missense Mutation | ATC,ATG | I,M 125 | NP_001180586.1 | |
XM_006722293.2 | 540 | Missense Mutation | ATC,ATG | I,M 111 | XP_006722356.1 | |
XM_011523606.2 | 540 | Missense Mutation | ATC,ATG | I,M 158 | XP_011521908.1 | |
XM_017025072.1 | 540 | Missense Mutation | ATC,ATG | I,M 158 | XP_016880561.1 | |
XM_017025073.1 | 540 | Missense Mutation | ATC,ATG | I,M 144 | XP_016880562.1 | |
XM_017025074.1 | 540 | Missense Mutation | ATC,ATG | I,M 125 | XP_016880563.1 | |
XM_017025075.1 | 540 | Missense Mutation | ATC,ATG | I,M 125 | XP_016880564.1 | |
XM_017025076.1 | 540 | Missense Mutation | ATC,ATG | I,M 125 | XP_016880565.1 | |
XM_017025077.1 | 540 | Missense Mutation | ATC,ATG | I,M 125 | XP_016880566.1 | |
XM_017025078.1 | 540 | Missense Mutation | ATC,ATG | I,M 111 | XP_016880567.1 |
HEXDC - hexosaminidase D | ||||||
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There are no transcripts associated with this gene. |