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Search Thermo Fisher Scientific
AGGGCCCGAAGTGGGAGGCGCCAGC[A/G]GCCACTTAGCACCCGCTGATCTTGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
13 submissions
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Phenotype: |
MIM: 603185 | ||||||||||||||||||||
Literature Links: |
CCDC17 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 |
CCDC17 - coiled-coil domain containing 17 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001114938.2 | 2502 | Missense Mutation | CGC,TGC | R,C 509 | NP_001108410.2 | |
NM_001190182.1 | 2502 | Missense Mutation | CGC,TGC | R,C 500 | NP_001177111.1 | |
XM_011540812.1 | 2502 | Missense Mutation | CGC,TGC | R,C 542 | XP_011539114.1 | |
XM_011540814.1 | 2502 | Missense Mutation | CGC,TGC | R,C 542 | XP_011539116.1 | |
XM_011540820.1 | 2502 | Intron | XP_011539122.1 | |||
XM_017000450.1 | 2502 | Missense Mutation | CGC,TGC | R,C 533 | XP_016855939.1 | |
XM_017000451.1 | 2502 | Missense Mutation | CGC,TGC | R,C 510 | XP_016855940.1 | |
XM_017000452.1 | 2502 | Missense Mutation | CGC,TGC | R,C 509 | XP_016855941.1 | |
XM_017000453.1 | 2502 | Missense Mutation | CGC,TGC | R,C 506 | XP_016855942.1 | |
XM_017000454.1 | 2502 | Missense Mutation | CGC,TGC | R,C 477 | XP_016855943.1 | |
XM_017000455.1 | 2502 | Missense Mutation | CGC,TGC | R,C 330 | XP_016855944.1 | |
XM_017000456.1 | 2502 | Missense Mutation | CGC,TGC | R,C 330 | XP_016855945.1 | |
XM_017000457.1 | 2502 | Intron | XP_016855946.1 | |||
XM_017000458.1 | 2502 | Intron | XP_016855947.1 |
GPBP1L1 - GC-rich promoter binding protein 1 like 1 | ||||||
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There are no transcripts associated with this gene. |
NASP - nuclear autoantigenic sperm protein | ||||||
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There are no transcripts associated with this gene. |