Product Details

SNP ID
rs200958044
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:96878462 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGCAGCTAACAACTACCCCGGCC[A/C]GCATCAGCAAGCTGTGGCACAGGTA
Phenotype
MIM: 604462
Polymorphism
A/C, Transversion 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_001122646.2 260 Missense Mutation CGG,CTG R603L NP_001116118.2
NM_001172667.1 260 Missense Mutation CGG,CTG R62L NP_001166138.1
NM_016490.4 260 Missense Mutation CGG,CTG R43L NP_057574.2
XM_011511294.2 260 Missense Mutation CGG,CTG R567L XP_011509596.1
XM_011511297.2 260 Intron XP_011509599.1
XM_017004263.1 260 Missense Mutation CGG,CTG R646L XP_016859752.1
XM_017004264.1 260 Missense Mutation CGG,CTG R633L XP_016859753.1
XM_017004265.1 260 Intron XP_016859754.1
XM_017004266.1 260 Missense Mutation CGG,CTG R69L XP_016859755.1
XM_017004267.1 260 Missense Mutation CGG,CTG R68L XP_016859756.1
XM_017004268.1 260 Missense Mutation CGG,CTG R43L XP_016859757.1
Gene
SEMA4C
Gene Name
semaphorin 4C
There are no transcripts associated with this gene.

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