Product Details

SNP ID: rs12934512
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:71931327 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: GCCTAGTCAGCCAAAACAGCAGTTA[C/G]AGTTGTCCCTTAGTATCTGAGAGAG
Phenotype: MIM: 616434 MIM: 607895
Polymorphism: C/G, Transversion 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		Intron			NP_001257904.1
NM_001270976.1		Intron			NP_001257905.1
NM_001270977.1		Intron			NP_001257906.1
NM_001270978.1		Intron			NP_001257907.1
NM_001270979.1		Intron			NP_001257908.1
NM_014761.3		Intron			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		Intron			NP_853514.1
XM_017023201.1		Intron			XP_016878690.1
XM_017023202.1		Intron			XP_016878691.1
XM_017023203.1		Intron			XP_016878692.1
XM_017023204.1		Intron			XP_016878693.1

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