Product Details
- SNP ID
-
rs202228164
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:32947681 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCGCGGTCCCCGGCGGGCAGCTCCA[A/C]CCCAATCCCGGCGGCCACCCGGCAG
- Phenotype
-
MIM: 150390
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
LOC100271832
PubMed Links
Gene Details
- Gene
- LOC100271832
- Gene Name
- uncharacterized LOC100271832
There are no transcripts associated with this gene.
- Gene
- LTBP1
- Gene Name
- latent transforming growth factor beta binding protein 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_000627.3 |
553 |
Intron |
|
|
NP_000618.3 |
NM_001166264.1 |
553 |
Intron |
|
|
NP_001159736.1 |
NM_001166265.1 |
553 |
Intron |
|
|
NP_001159737.1 |
NM_001166266.1 |
553 |
Intron |
|
|
NP_001159738.1 |
NM_206943.2 |
553 |
Silent Mutation |
CAA,CAC |
Q119H |
NP_996826.2 |
XM_005264317.3 |
553 |
Missense Mutation |
CAA,CAC |
Q119H |
XP_005264374.1 |
XM_005264318.3 |
553 |
Missense Mutation |
CAA,CAC |
Q119H |
XP_005264375.1 |
XM_011532853.2 |
553 |
Missense Mutation |
CAA,CAC |
Q119H |
XP_011531155.1 |
XM_011532855.2 |
553 |
Missense Mutation |
CAA,CAC |
Q119H |
XP_011531157.1 |
XM_011532856.2 |
553 |
Missense Mutation |
CAA,CAC |
Q119H |
XP_011531158.1 |
XM_011532857.2 |
553 |
Missense Mutation |
CAA,CAC |
Q119H |
XP_011531159.1 |
XM_011532858.2 |
553 |
Missense Mutation |
CAA,CAC |
Q119H |
XP_011531160.1 |
XM_011532859.2 |
553 |
Missense Mutation |
CAA,CAC |
Q119H |
XP_011531161.1 |
XM_011532860.2 |
553 |
Missense Mutation |
CAA,CAC |
Q119H |
XP_011531162.1 |
XM_011532861.2 |
553 |
Missense Mutation |
CAA,CAC |
Q119H |
XP_011531163.1 |
XM_011532862.2 |
553 |
Missense Mutation |
CAA,CAC |
Q119H |
XP_011531164.1 |
XM_017004108.1 |
553 |
Missense Mutation |
CAA,CAC |
Q119H |
XP_016859597.1 |
XM_017004109.1 |
553 |
Missense Mutation |
CAA,CAC |
Q119H |
XP_016859598.1 |
XM_017004110.1 |
553 |
Missense Mutation |
CAA,CAC |
Q119H |
XP_016859599.1 |
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