Product Details

SNP ID
rs139500935
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:71929579 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAACTTCAGTGTCACTGCCCACTG[C/T]TGTCGTGGCTGCTTGCTCAGATGAG
Phenotype
MIM: 616434 MIM: 607895
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
IST1 PubMed Links

Gene Details

Gene
IST1
Gene Name
IST1, ESCRT-III associated factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001270975.1 2886 UTR 3 NP_001257904.1
NM_001270976.1 2886 UTR 3 NP_001257905.1
NM_001270977.1 2886 UTR 3 NP_001257906.1
NM_001270978.1 2886 UTR 3 NP_001257907.1
NM_001270979.1 2886 UTR 3 NP_001257908.1
NM_014761.3 2886 UTR 3 NP_055576.2
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 2886 Missense Mutation ACA,GCA T1720A NP_853514.1
XM_017023201.1 2886 Intron XP_016878690.1
XM_017023202.1 2886 Intron XP_016878691.1
XM_017023203.1 2886 Intron XP_016878692.1
XM_017023204.1 2886 Intron XP_016878693.1

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