Product Details
- SNP ID
-
rs1126821
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:41755893 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- TACATGGGGCGGTAGGTGGCATCCA[A/T]GTCTGGGGACAAAAAGTGGGGCTCG
- Phenotype
-
MIM: 173325
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
JUP
PubMed Links
Gene Details
- Gene
- JUP
- Gene Name
- junction plakoglobin
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_002230.2 |
2472 |
Missense Mutation |
ATG,TTG |
M697L |
NP_002221.1 |
NM_021991.2 |
2472 |
Missense Mutation |
ATG,TTG |
M697L |
NP_068831.1 |
XM_006721873.2 |
2472 |
Missense Mutation |
ATG,TTG |
M697L |
XP_006721936.1 |
XM_006721874.2 |
2472 |
Missense Mutation |
ATG,TTG |
M697L |
XP_006721937.1 |
XM_006721875.1 |
2472 |
Missense Mutation |
ATG,TTG |
M697L |
XP_006721938.1 |
XM_006721878.1 |
2472 |
Missense Mutation |
ATG,TTG |
M697L |
XP_006721941.1 |
XM_011524753.2 |
2472 |
Missense Mutation |
ATG,TTG |
M697L |
XP_011523055.1 |
XM_011524755.1 |
2472 |
Missense Mutation |
ATG,TTG |
M697L |
XP_011523057.1 |
XM_011524756.1 |
2472 |
Missense Mutation |
ATG,TTG |
M697L |
XP_011523058.1 |
XM_011524757.2 |
2472 |
Missense Mutation |
ATG,TTG |
M697L |
XP_011523059.1 |
XM_011524758.1 |
2472 |
Missense Mutation |
ATG,TTG |
M697L |
XP_011523060.1 |
XM_017024588.1 |
2472 |
Missense Mutation |
ATG,TTG |
M714L |
XP_016880077.1 |
XM_017024589.1 |
2472 |
Missense Mutation |
ATG,TTG |
M714L |
XP_016880078.1 |
XM_017024590.1 |
2472 |
Missense Mutation |
ATG,TTG |
M697L |
XP_016880079.1 |
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