Product Details

SNP ID
rs199476095
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:2089957 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGTCCTCTGTGGCCTGGTTGAGTC[G/A]GTCAAACTGGGTGAGCAGGGCCTCG
Phenotype
MIM: 611621 MIM: 601313 MIM: 191092
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
LOC105371049 PubMed Links

Gene Details

Gene
LOC105371049
Gene Name
uncharacterized LOC105371049
There are no transcripts associated with this gene.

Gene
MIR1225
Gene Name
microRNA 1225
There are no transcripts associated with this gene.

Gene
PKD1
Gene Name
polycystin 1, transient receptor potential channel interacting
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000296.3 12916 Missense Mutation NP_000287.3
NM_001009944.2 12916 Missense Mutation NP_001009944.2
XM_005255370.3 12916 Nonsense Mutation XP_005255427.1
XM_011522528.2 12916 Nonsense Mutation XP_011520830.1
XM_011522529.2 12916 Nonsense Mutation XP_011520831.1
XM_011522530.2 12916 Nonsense Mutation XP_011520832.1
XM_011522532.2 12916 Nonsense Mutation XP_011520834.1
XM_011522534.2 12916 Nonsense Mutation XP_011520836.1
XM_011522535.2 12916 Nonsense Mutation XP_011520837.1
XM_011522537.2 12916 Nonsense Mutation XP_011520839.1
XM_017023285.1 12916 Nonsense Mutation XP_016878774.1
Gene
TSC2
Gene Name
tuberous sclerosis 2
There are no transcripts associated with this gene.

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