Product Details

SNP ID
rs149143251
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:96877920 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGGCAGTGGGTCAGCAGCTCCTG[C/T]CAACGGATGTAGGTCTGGGTAGCCA
Phenotype
MIM: 604462
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FAM178B PubMed Links

Gene Details

Gene
FAM178B
Gene Name
family with sequence similarity 178 member B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001122646.2 429 Nonsense Mutation TGA,TGG *659W NP_001116118.2
NM_001172667.1 429 Nonsense Mutation TGA,TGG *118W NP_001166138.1
NM_016490.4 429 Nonsense Mutation TGA,TGG *99W NP_057574.2
XM_011511294.2 429 Nonsense Mutation TGA,TGG *623W XP_011509596.1
XM_011511297.2 429 Intron XP_011509599.1
XM_017004263.1 429 Nonsense Mutation TGA,TGG *702W XP_016859752.1
XM_017004264.1 429 Nonsense Mutation TGA,TGG *689W XP_016859753.1
XM_017004265.1 429 Intron XP_016859754.1
XM_017004266.1 429 Nonsense Mutation TGA,TGG *125W XP_016859755.1
XM_017004267.1 429 Nonsense Mutation TGA,TGG *124W XP_016859756.1
XM_017004268.1 429 Nonsense Mutation TGA,TGG *99W XP_016859757.1
Gene
SEMA4C
Gene Name
semaphorin 4C
There are no transcripts associated with this gene.

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