Product Details
- SNP ID
-
rs147885960
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:55175864 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATTTCTGTAACTGCAGCCTGAGATC[A/G]AAGAATAGACGTGATGTCATTAGAT
- Phenotype
-
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CLHC1
PubMed Links
Gene Details
- Gene
- CLHC1
- Gene Name
- clathrin heavy chain linker domain containing 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001135598.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R441* |
NP_001129070.1 |
NM_152385.2 |
5096 |
Nonsense Mutation |
CGA,TGA |
R563* |
NP_689598.2 |
XM_005264136.2 |
5096 |
Nonsense Mutation |
CGA,TGA |
R563* |
XP_005264193.1 |
XM_006711937.3 |
5096 |
Nonsense Mutation |
CGA,TGA |
R446* |
XP_006712000.2 |
XM_006711938.3 |
5096 |
Nonsense Mutation |
CGA,TGA |
R283* |
XP_006712001.1 |
XM_006711939.3 |
5096 |
Nonsense Mutation |
CGA,TGA |
R269* |
XP_006712002.1 |
XM_011532519.2 |
5096 |
Nonsense Mutation |
CGA,TGA |
R563* |
XP_011530821.1 |
XM_011532520.2 |
5096 |
Nonsense Mutation |
CGA,TGA |
R563* |
XP_011530822.1 |
XM_011532521.2 |
5096 |
Nonsense Mutation |
CGA,TGA |
R563* |
XP_011530823.1 |
XM_011532522.2 |
5096 |
Nonsense Mutation |
CGA,TGA |
R563* |
XP_011530824.1 |
XM_011532523.2 |
5096 |
Nonsense Mutation |
CGA,TGA |
R563* |
XP_011530825.1 |
XM_011532524.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R563* |
XP_011530826.1 |
XM_011532525.2 |
5096 |
Nonsense Mutation |
CGA,TGA |
R563* |
XP_011530827.1 |
XM_011532527.2 |
5096 |
Nonsense Mutation |
CGA,TGA |
R441* |
XP_011530829.1 |
XM_011532528.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R441* |
XP_011530830.1 |
XM_011532529.2 |
5096 |
Nonsense Mutation |
CGA,TGA |
R441* |
XP_011530831.1 |
XM_011532530.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R441* |
XP_011530832.1 |
XM_011532534.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R423* |
XP_011530836.1 |
XM_011532535.2 |
5096 |
Nonsense Mutation |
CGA,TGA |
R396* |
XP_011530837.1 |
XM_017003333.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R497* |
XP_016858822.1 |
XM_017003334.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R497* |
XP_016858823.1 |
XM_017003335.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R441* |
XP_016858824.1 |
XM_017003336.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R441* |
XP_016858825.1 |
XM_017003337.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R441* |
XP_016858826.1 |
XM_017003338.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R441* |
XP_016858827.1 |
XM_017003339.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R437* |
XP_016858828.1 |
XM_017003340.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R423* |
XP_016858829.1 |
XM_017003341.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R423* |
XP_016858830.1 |
XM_017003342.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R423* |
XP_016858831.1 |
XM_017003343.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R375* |
XP_016858832.1 |
XM_017003344.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R375* |
XP_016858833.1 |
XM_017003345.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R375* |
XP_016858834.1 |
XM_017003346.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R371* |
XP_016858835.1 |
XM_017003347.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R357* |
XP_016858836.1 |
XM_017003348.1 |
5096 |
Intron |
|
|
XP_016858837.1 |
XM_017003349.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R233* |
XP_016858838.1 |
XM_017003350.1 |
5096 |
Nonsense Mutation |
CGA,TGA |
R233* |
XP_016858839.1 |
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