Product Details

SNP ID
rs34379884
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:2088737 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTCAGACAGCTCTTTTATTGACTT[C/T]GTCTGCTTGGTGCGGGGGTTGGGGG
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 14136 UTR 3 NP_000287.3
NM_001009944.2 14136 UTR 3 NP_001009944.2
XM_005255370.3 14136 UTR 3 XP_005255427.1
XM_011522528.2 14136 UTR 3 XP_011520830.1
XM_011522529.2 14136 UTR 3 XP_011520831.1
XM_011522530.2 14136 UTR 3 XP_011520832.1
XM_011522532.2 14136 UTR 3 XP_011520834.1
XM_011522534.2 14136 UTR 3 XP_011520836.1
XM_011522535.2 14136 UTR 3 XP_011520837.1
XM_011522537.2 14136 UTR 3 XP_011520839.1
XM_017023285.1 14136 UTR 3 XP_016878774.1
Gene
TSC2
Gene Name
tuberous sclerosis 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000548.4 14136 Intron NP_000539.2
NM_001077183.2 14136 Intron NP_001070651.1
NM_001114382.2 14136 Intron NP_001107854.1
NM_001318827.1 14136 Intron NP_001305756.1
NM_001318829.1 14136 Intron NP_001305758.1
NM_001318831.1 14136 Intron NP_001305760.1
NM_001318832.1 14136 Intron NP_001305761.1
XM_005255529.4 14136 Intron XP_005255586.2
XM_005255531.4 14136 Intron XP_005255588.2
XM_011522636.2 14136 Intron XP_011520938.1
XM_011522637.2 14136 Intron XP_011520939.1
XM_011522638.2 14136 Intron XP_011520940.2
XM_011522639.2 14136 Intron XP_011520941.1
XM_011522640.2 14136 Intron XP_011520942.1
XM_017023615.1 14136 Intron XP_016879104.1
XM_017023616.1 14136 Intron XP_016879105.1
XM_017023617.1 14136 Intron XP_016879106.1
XM_017023618.1 14136 Intron XP_016879107.1

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