Product Details
- SNP ID
-
rs200951126
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:40599520 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTGCCCAGTCCCAGCCCCAGCGTGA[A/G]GAAGAGACAGGTGTCCCTCAACTGG
- Phenotype
-
MIM: 604710
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
LTBP4
PubMed Links
Gene Details
- Gene
- LTBP4
- Gene Name
- latent transforming growth factor beta binding protein 4
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001042544.1 |
353 |
Missense Mutation |
AAG,AGG |
K102R |
NP_001036009.1 |
NM_001042545.1 |
353 |
Intron |
|
|
NP_001036010.1 |
NM_003573.2 |
353 |
Missense Mutation |
AAG,AGG |
K65R |
NP_003564.2 |
XM_011527376.2 |
353 |
Missense Mutation |
AAG,AGG |
K102R |
XP_011525678.1 |
XM_011527377.2 |
353 |
Missense Mutation |
AAG,AGG |
K113R |
XP_011525679.1 |
XM_011527378.2 |
353 |
Missense Mutation |
AAG,AGG |
K113R |
XP_011525680.1 |
XM_011527379.1 |
353 |
Intron |
|
|
XP_011525681.1 |
XM_011527380.2 |
353 |
Missense Mutation |
AAG,AGG |
K113R |
XP_011525682.1 |
XM_011527381.2 |
353 |
Missense Mutation |
AAG,AGG |
K113R |
XP_011525683.1 |
XM_011527382.2 |
353 |
Missense Mutation |
AAG,AGG |
K113R |
XP_011525684.1 |
XM_011527383.2 |
353 |
Missense Mutation |
AAG,AGG |
K113R |
XP_011525685.1 |
XM_011527384.2 |
353 |
Missense Mutation |
AAG,AGG |
K113R |
XP_011525686.1 |
XM_011527385.2 |
353 |
Missense Mutation |
AAG,AGG |
K113R |
XP_011525687.1 |
XM_011527386.2 |
353 |
Missense Mutation |
AAG,AGG |
K113R |
XP_011525688.1 |
XM_011527387.1 |
353 |
UTR 5 |
|
|
XP_011525689.1 |
XM_017027352.1 |
353 |
Missense Mutation |
AAG,AGG |
K113R |
XP_016882841.1 |
XM_017027353.1 |
353 |
Missense Mutation |
AAG,AGG |
K113R |
XP_016882842.1 |
XM_017027354.1 |
353 |
Missense Mutation |
AAG,AGG |
K113R |
XP_016882843.1 |
- Gene
- SHKBP1
- Gene Name
- SH3KBP1 binding protein 1
There are no transcripts associated with this gene.
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