Product Details

SNP ID
rs200799506
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:4068860 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCGGTGCCTTAATTTCTTCCTTCT[C/G]ATTTTCGGGAAAAGTCAGAGGTATA
Phenotype
MIM: 602338
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
FAM217A PubMed Links

Gene Details

Gene
FAM217A
Gene Name
family with sequence similarity 217 member A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_173563.2 1988 Missense Mutation CAG,GAG Q455E NP_775834.2
XM_005248951.3 1988 Missense Mutation CAG,GAG Q446E XP_005249008.1
XM_006715025.2 1988 Missense Mutation CAG,GAG Q392E XP_006715088.1
XM_006715026.3 1988 Missense Mutation CAG,GAG Q392E XP_006715089.1
XM_011514413.2 1988 Missense Mutation CAG,GAG Q392E XP_011512715.1
XM_011514414.2 1988 Missense Mutation CAG,GAG Q392E XP_011512716.1
XM_011514415.1 1988 Missense Mutation CAG,GAG Q445E XP_011512717.1
XM_011514416.2 1988 Missense Mutation CAG,GAG Q442E XP_011512718.1
XM_011514417.1 1988 Missense Mutation CAG,GAG Q407E XP_011512719.1
XM_017010480.1 1988 Missense Mutation CAG,GAG Q475E XP_016865969.1
XM_017010481.1 1988 Missense Mutation CAG,GAG Q446E XP_016865970.1
XM_017010482.1 1988 Missense Mutation CAG,GAG Q392E XP_016865971.1
Gene
PRPF4B
Gene Name
pre-mRNA processing factor 4B
There are no transcripts associated with this gene.

View Full Product Details