Product Details

SNP ID: rs137883370
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.7:47800837 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGAACCCACATAGAGAGCAGAAATC[A/G]GTGCAGGTGGGAGAGGGCGGCCAGC
Phenotype: MIM: 609721
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: C7orf69 PubMed Links

Gene Details

Gene: C7orf69
Gene Name: chromosome 7 open reading frame 69

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001302627.1	8039	Intron			NP_001289556.1
NM_025031.2	8039	Intron			NP_079307.2

Gene: PKD1L1
Gene Name: polycystin 1 like 1, transient receptor potential channel interacting

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138295.3	8039	Nonsense Mutation	CGA,TGA	R2669*	NP_612152.1
XM_017011798.1	8039	Nonsense Mutation	CGA,TGA	R2728*	XP_016867287.1

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