Product Details

SNP ID: rs147505098
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:71933983 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AAGCCCACCACCTCGTCCCAGGCTC[A/G]GCTCAGTGTCCTGCTGATGACCCGC
Phenotype: MIM: 616434 MIM: 607895
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: IST1 PubMed Links

Gene Details

Gene: IST1
Gene Name: IST1, ESCRT-III associated factor

There are no transcripts associated with this gene.

Gene: PKD1L3
Gene Name: polycystin 1 like 3, transient receptor potential channel interacting

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_181536.1	4756	Nonsense Mutation	CGA,TGA	R1586*	NP_853514.1
XM_017023201.1	4756	Intron			XP_016878690.1
XM_017023202.1	4756	Intron			XP_016878691.1
XM_017023203.1	4756	Intron			XP_016878692.1
XM_017023204.1	4756	Intron			XP_016878693.1

View Full Product Details