Product Details
- SNP ID
-
rs200446880
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:2089821 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CACACCCCGACTGGCCCGGGCAAGG[C/T]GGCTGGGCAGTGCTGGCCGCAGGCC
- 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 |
13052 |
Missense Mutation |
CAC,CGC |
H4272R |
NP_000287.3 |
| NM_001009944.2 |
13052 |
Missense Mutation |
CAC,CGC |
H4273R |
NP_001009944.2 |
| XM_005255370.3 |
13052 |
Missense Mutation |
CAC,CGC |
H3258R |
XP_005255427.1 |
| XM_011522528.2 |
13052 |
Missense Mutation |
CAC,CGC |
H4291R |
XP_011520830.1 |
| XM_011522529.2 |
13052 |
Missense Mutation |
CAC,CGC |
H4290R |
XP_011520831.1 |
| XM_011522530.2 |
13052 |
Missense Mutation |
CAC,CGC |
H4281R |
XP_011520832.1 |
| XM_011522532.2 |
13052 |
Missense Mutation |
CAC,CGC |
H4257R |
XP_011520834.1 |
| XM_011522534.2 |
13052 |
Missense Mutation |
CAC,CGC |
H4211R |
XP_011520836.1 |
| XM_011522535.2 |
13052 |
Missense Mutation |
CAC,CGC |
H3573R |
XP_011520837.1 |
| XM_011522537.2 |
13052 |
Missense Mutation |
CAC,CGC |
H3299R |
XP_011520839.1 |
| XM_017023285.1 |
13052 |
Missense Mutation |
CAC,CGC |
H3297R |
XP_016878774.1 |
- Gene
- TSC2
- Gene Name
- tuberous sclerosis 2
There are no transcripts associated with this gene.
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