Product Details

SNP ID

rs144365949

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:4068990 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGTAGGTTTGAATGAGAGTTCTTG[G/T]CATGGACTTAAAATAGAACTTTTGG

Phenotype

MIM: 602338

Polymorphism

G/T, 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	1858	Nonsense Mutation	TGA,TGC	*411C	NP_775834.2
XM_005248951.3	1858	Nonsense Mutation	TGA,TGC	*402C	XP_005249008.1
XM_006715025.2	1858	Nonsense Mutation	TGA,TGC	*348C	XP_006715088.1
XM_006715026.3	1858	Nonsense Mutation	TGA,TGC	*348C	XP_006715089.1
XM_011514413.2	1858	Nonsense Mutation	TGA,TGC	*348C	XP_011512715.1
XM_011514414.2	1858	Nonsense Mutation	TGA,TGC	*348C	XP_011512716.1
XM_011514415.1	1858	Nonsense Mutation	TGA,TGC	*401C	XP_011512717.1
XM_011514416.2	1858	Nonsense Mutation	TGA,TGC	*398C	XP_011512718.1
XM_011514417.1	1858	Nonsense Mutation	TGA,TGC	*363C	XP_011512719.1
XM_017010480.1	1858	Nonsense Mutation	TGA,TGC	*431C	XP_016865969.1
XM_017010481.1	1858	Nonsense Mutation	TGA,TGC	*402C	XP_016865970.1
XM_017010482.1	1858	Nonsense Mutation	TGA,TGC	*348C	XP_016865971.1

Gene

PRPF4B

Gene Name

pre-mRNA processing factor 4B

There are no transcripts associated with this gene.

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