Product Details
- SNP ID
-
rs147688134
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
8
- Location
-
Chr.1:150553051 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GACATGTCAGCTCCCTACAGTGCAG[C/T]TCCACCCGAGTCTGCCCCTCCCTCC
- Phenotype
-
MIM: 610113
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ADAMTSL4
PubMed Links
Gene Details
- Gene
- ADAMTSL4
- Gene Name
- ADAMTS like 4
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001288607.1 |
480 |
Missense Mutation |
CTC,TTC |
L78F |
NP_001275536.1 |
NM_001288608.1 |
480 |
Missense Mutation |
CTC,TTC |
L78F |
NP_001275537.1 |
NM_019032.5 |
480 |
Missense Mutation |
CTC,TTC |
L78F |
NP_061905.2 |
NM_025008.4 |
480 |
Missense Mutation |
CTC,TTC |
L78F |
NP_079284.2 |
XM_011509644.2 |
480 |
Missense Mutation |
CTC,TTC |
L111F |
XP_011507946.1 |
XM_011509645.2 |
480 |
Missense Mutation |
CTC,TTC |
L111F |
XP_011507947.1 |
XM_011509648.2 |
480 |
Missense Mutation |
CTC,TTC |
L78F |
XP_011507950.1 |
XM_011509649.2 |
480 |
Missense Mutation |
CTC,TTC |
L111F |
XP_011507951.1 |
XM_011509650.2 |
480 |
Missense Mutation |
CTC,TTC |
L111F |
XP_011507952.1 |
XM_011509651.2 |
480 |
Intron |
|
|
XP_011507953.1 |
XM_011509652.1 |
480 |
Intron |
|
|
XP_011507954.1 |
XM_017001506.1 |
480 |
Missense Mutation |
CTC,TTC |
L78F |
XP_016856995.1 |
XM_017001507.1 |
480 |
Intron |
|
|
XP_016856996.1 |
- Gene
- ADAMTSL4-AS1
- Gene Name
- ADAMTSL4 antisense RNA 1
There are no transcripts associated with this gene.
- Gene
- LOC100289061
- Gene Name
- uncharacterized LOC100289061
There are no transcripts associated with this gene.
- Gene
- LOC107983947
- Gene Name
- uncharacterized LOC107983947
There are no transcripts associated with this gene.
- Gene
- MIR4257
- Gene Name
- microRNA 4257
There are no transcripts associated with this gene.
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