Product Details

SNP ID
rs144113819
Assay Type
Functionally tested
NCBI dbSNP Submissions
17
Location
Chr.1:222747042 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAACTTTCCTGGGGGCCCTACCTA[C/T]GATTTTGGGCAGGACGAATAGCAAG
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FAM177B PubMed Links

Gene Details

Gene
FAM177B
Gene Name
family with sequence similarity 177 member B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001324080.1 993 Nonsense Mutation CGA,TGA R68* NP_001311009.1
NM_207468.2 993 Nonsense Mutation CGA,TGA R68* NP_997351.2
XM_017001279.1 993 Nonsense Mutation CGA,TGA R68* XP_016856768.1
XM_017001280.1 993 Nonsense Mutation CGA,TGA R68* XP_016856769.1
XM_017001281.1 993 Nonsense Mutation CGA,TGA R68* XP_016856770.1
XM_017001282.1 993 Nonsense Mutation CGA,TGA R68* XP_016856771.1
XM_017001283.1 993 Nonsense Mutation CGA,TGA R79* XP_016856772.1
XM_017001284.1 993 Nonsense Mutation CGA,TGA R79* XP_016856773.1
XM_017001285.1 993 Nonsense Mutation CGA,TGA R79* XP_016856774.1

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