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GCTGGCAGTGGGTCAGCAGCTCCTG[C/T]CAACGGATGTAGGTCTGGGTAGCCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 604462 | ||||||||||||||||||||
Literature Links: |
FAM178B 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 |
FAM178B - family with sequence similarity 178 member B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001122646.2 | 429 | Nonsense Mutation | TGA,TGG | *,W 659 | NP_001116118.2 | |
NM_001172667.1 | 429 | Nonsense Mutation | TGA,TGG | *,W 118 | NP_001166138.1 | |
NM_016490.4 | 429 | Nonsense Mutation | TGA,TGG | *,W 99 | NP_057574.2 | |
XM_011511294.2 | 429 | Nonsense Mutation | TGA,TGG | *,W 623 | XP_011509596.1 | |
XM_011511297.2 | 429 | Intron | XP_011509599.1 | |||
XM_017004263.1 | 429 | Nonsense Mutation | TGA,TGG | *,W 702 | XP_016859752.1 | |
XM_017004264.1 | 429 | Nonsense Mutation | TGA,TGG | *,W 689 | XP_016859753.1 | |
XM_017004265.1 | 429 | Intron | XP_016859754.1 | |||
XM_017004266.1 | 429 | Nonsense Mutation | TGA,TGG | *,W 125 | XP_016859755.1 | |
XM_017004267.1 | 429 | Nonsense Mutation | TGA,TGG | *,W 124 | XP_016859756.1 | |
XM_017004268.1 | 429 | Nonsense Mutation | TGA,TGG | *,W 99 | XP_016859757.1 |
SEMA4C - semaphorin 4C | ||||||
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There are no transcripts associated with this gene. |