Product Details

SNP ID

rs115858043

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:2089789 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGGTGTCCTGCTGGGGCCAGTGG[C/T]CAGGTCCACACCCCGACTGGCCCGG

Phenotype

MIM: 611621 MIM: 601313 MIM: 191092

Polymorphism

C/T, 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	13084	Missense Mutation	ACC,GCC	T4283A	NP_000287.3
NM_001009944.2	13084	Missense Mutation	ACC,GCC	T4284A	NP_001009944.2
XM_005255370.3	13084	Missense Mutation	ACC,GCC	T3269A	XP_005255427.1
XM_011522528.2	13084	Missense Mutation	ACC,GCC	T4302A	XP_011520830.1
XM_011522529.2	13084	Missense Mutation	ACC,GCC	T4301A	XP_011520831.1
XM_011522530.2	13084	Missense Mutation	ACC,GCC	T4292A	XP_011520832.1
XM_011522532.2	13084	Missense Mutation	ACC,GCC	T4268A	XP_011520834.1
XM_011522534.2	13084	Missense Mutation	ACC,GCC	T4222A	XP_011520836.1
XM_011522535.2	13084	Missense Mutation	ACC,GCC	T3584A	XP_011520837.1
XM_011522537.2	13084	Missense Mutation	ACC,GCC	T3310A	XP_011520839.1
XM_017023285.1	13084	Missense Mutation	ACC,GCC	T3308A	XP_016878774.1

Gene

TSC2

Gene Name

tuberous sclerosis 2

There are no transcripts associated with this gene.

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