Product Details
- SNP ID
-
rs10508
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:3023239 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- GGCCAGTGGAGGAACCTACCTGAGT[G/T]GGGGCAGGGCTGGGGAGAAGGTCAT
- Phenotype
-
MIM: 617003
MIM: 615798
MIM: 615799
MIM: 615403
MIM: 605914
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
BICDL2
PubMed Links
Gene Details
- Gene
- BICDL2
- Gene Name
- BICD family like cargo adaptor 2
There are no transcripts associated with this gene.
- Gene
- CLDN6
- Gene Name
- claudin 6
There are no transcripts associated with this gene.
- Gene
- CLDN9
- Gene Name
- claudin 9
There are no transcripts associated with this gene.
- Gene
- HCFC1R1
- Gene Name
- host cell factor C1 regulator 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001002017.2 |
187 |
Missense Mutation |
CAA,CCA |
Q73P |
NP_001002017.1 |
NM_001002018.2 |
187 |
Missense Mutation |
CAA,CCA |
Q92P |
NP_001002018.1 |
NM_001288665.1 |
187 |
Missense Mutation |
CAA,CCA |
Q92P |
NP_001275594.1 |
NM_001288666.1 |
187 |
Missense Mutation |
CAA,CCA |
Q73P |
NP_001275595.1 |
NM_001288667.1 |
187 |
Missense Mutation |
CAA,CCA |
Q90P |
NP_001275596.1 |
NM_001288668.1 |
187 |
Missense Mutation |
CAA,CCA |
Q29P |
NP_001275597.1 |
NM_001308070.1 |
187 |
Missense Mutation |
CAA,CCA |
Q52P |
NP_001294999.1 |
NM_017885.3 |
187 |
Missense Mutation |
CAA,CCA |
Q92P |
NP_060355.1 |
XM_011522559.2 |
187 |
Missense Mutation |
CAA,CCA |
Q29P |
XP_011520861.1 |
XM_017023384.1 |
187 |
Missense Mutation |
CAA,CCA |
Q90P |
XP_016878873.1 |
- Gene
- LOC100128770
- Gene Name
- uncharacterized LOC100128770
There are no transcripts associated with this gene.
- Gene
- THOC6
- Gene Name
- THO complex 6
- Gene
- TNFRSF12A
- Gene Name
- TNF receptor superfamily member 12A
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_016639.2 |
187 |
Intron |
|
|
NP_057723.1 |
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