Product Details
- SNP ID
-
rs182950163
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:869863 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCGGAGGCCGCAATGCCCACCTAGA[A/G]CAGGTCGTAGAAGTAGTCCAGGCCC
- Phenotype
-
MIM: 615692
MIM: 602644
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CHID1
PubMed Links
Gene Details
- Gene
- CHID1
- Gene Name
- chitinase domain containing 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001142674.1 |
1395 |
Missense Mutation |
CTC,TTC |
L393F |
NP_001136146.1 |
NM_001142675.1 |
1395 |
Missense Mutation |
CTC,TTC |
L393F |
NP_001136147.1 |
NM_001142676.1 |
1395 |
Missense Mutation |
CTC,TTC |
L418F |
NP_001136148.1 |
NM_001142677.1 |
1395 |
Missense Mutation |
CTC,TTC |
L362F |
NP_001136149.1 |
NM_023947.3 |
1395 |
Missense Mutation |
CTC,TTC |
L393F |
NP_076436.3 |
XM_005253072.2 |
1395 |
Missense Mutation |
CTC,TTC |
L423F |
XP_005253129.1 |
XM_005253073.4 |
1395 |
Missense Mutation |
CTC,TTC |
L362F |
XP_005253130.1 |
XM_006718282.2 |
1395 |
Missense Mutation |
CTC,TTC |
L393F |
XP_006718345.1 |
XM_011520299.1 |
1395 |
Missense Mutation |
CTC,TTC |
L478F |
XP_011518601.1 |
XM_011520300.1 |
1395 |
Missense Mutation |
CTC,TTC |
L447F |
XP_011518602.1 |
XM_011520301.2 |
1395 |
Intron |
|
|
XP_011518603.1 |
XM_011520302.2 |
1395 |
Intron |
|
|
XP_011518604.1 |
XM_017018166.1 |
1395 |
Missense Mutation |
CTC,TTC |
L393F |
XP_016873655.1 |
XM_017018167.1 |
1395 |
Intron |
|
|
XP_016873656.1 |
XM_017018168.1 |
1395 |
Intron |
|
|
XP_016873657.1 |
- Gene
- TSPAN4
- Gene Name
- tetraspanin 4
There are no transcripts associated with this gene.
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