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GTCAGCCCTGGGGACAGAGTCTCCG[T/C]GCTTCTTAGACAGACCTGACTTCTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604567 MIM: 615175 | ||||||||||||||||||||
Literature Links: |
C16orf92 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 |
C16orf92 - chromosome 16 open reading frame 92 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001109659.1 | 122 | Missense Mutation | CGC,TGC | R,C 39 | NP_001103129.1 | |
NM_001109660.1 | 122 | Missense Mutation | CGC,TGC | R,C 61 | NP_001103130.1 |
DOC2A - double C2 domain alpha | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282062.1 | 122 | Intron | NP_001268991.1 | |||
NM_001282063.1 | 122 | Intron | NP_001268992.1 | |||
NM_001282068.1 | 122 | Intron | NP_001268997.1 | |||
NM_003586.2 | 122 | Intron | NP_003577.2 | |||
XM_011545975.1 | 122 | Intron | XP_011544277.1 | |||
XM_017023776.1 | 122 | Intron | XP_016879265.1 | |||
XM_017023777.1 | 122 | Intron | XP_016879266.1 | |||
XM_017023778.1 | 122 | Intron | XP_016879267.1 |
FAM57B - family with sequence similarity 57 member B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318504.1 | 122 | Intron | NP_001305433.1 | |||
NM_031478.5 | 122 | Intron | NP_113666.2 | |||
XM_005255613.3 | 122 | Intron | XP_005255670.1 | |||
XM_005255614.3 | 122 | Intron | XP_005255671.1 | |||
XM_005255615.2 | 122 | Intron | XP_005255672.1 | |||
XM_017023749.1 | 122 | Intron | XP_016879238.1 | |||
XM_017023750.1 | 122 | Intron | XP_016879239.1 | |||
XM_017023751.1 | 122 | Intron | XP_016879240.1 | |||
XM_017023752.1 | 122 | Intron | XP_016879241.1 | |||
XM_017023753.1 | 122 | Intron | XP_016879242.1 | |||
XM_017023754.1 | 122 | Intron | XP_016879243.1 |