Product Details
- SNP ID
-
rs189601972
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.13:51934941 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GAGTCCCGCCACCTGTCATCCATGC[C/T]TATGTGCACACTGACCTGGGATGCC
- Phenotype
-
MIM: 606882
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ATP7B
PubMed Links
Gene Details
- Gene
- ATP7B
- Gene Name
- ATPase copper transporting beta
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_000053.3 |
3749 |
Missense Mutation |
AGC,GGC |
S1405G |
NP_000044.2 |
NM_001005918.2 |
3749 |
Missense Mutation |
AGC,GGC |
S1198G |
NP_001005918.1 |
NM_001243182.1 |
3749 |
Missense Mutation |
AGC,GGC |
S1294G |
NP_001230111.1 |
XM_005266423.2 |
3749 |
Missense Mutation |
AGC,GGC |
S1373G |
XP_005266480.1 |
XM_005266424.4 |
3749 |
Missense Mutation |
AGC,GGC |
S1373G |
XP_005266481.1 |
XM_005266427.2 |
3749 |
Missense Mutation |
AGC,GGC |
S1327G |
XP_005266484.1 |
XM_005266428.1 |
3749 |
Missense Mutation |
AGC,GGC |
S1321G |
XP_005266485.1 |
XM_005266430.4 |
3749 |
Missense Mutation |
AGC,GGC |
S1405G |
XP_005266487.1 |
XM_005266431.3 |
3749 |
Missense Mutation |
AGC,GGC |
S1393G |
XP_005266488.1 |
XM_005266432.2 |
3749 |
Missense Mutation |
AGC,GGC |
S1243G |
XP_005266489.1 |
XM_006719837.3 |
3749 |
Missense Mutation |
AGC,GGC |
S1373G |
XP_006719900.1 |
XM_006719838.1 |
3749 |
Missense Mutation |
AGC,GGC |
S677G |
XP_006719901.1 |
XM_006719839.1 |
3749 |
Missense Mutation |
AGC,GGC |
S616G |
XP_006719902.1 |
XM_011535117.2 |
3749 |
Missense Mutation |
AGC,GGC |
S1373G |
XP_011533419.1 |
XM_011535118.1 |
3749 |
Missense Mutation |
AGC,GGC |
S1360G |
XP_011533420.1 |
XM_011535119.1 |
3749 |
Missense Mutation |
AGC,GGC |
S1344G |
XP_011533421.1 |
XM_011535122.2 |
3749 |
Missense Mutation |
AGC,GGC |
S961G |
XP_011533424.1 |
XM_017020627.1 |
3749 |
Missense Mutation |
AGC,GGC |
S1373G |
XP_016876116.1 |
XM_017020628.1 |
3749 |
Missense Mutation |
AGC,GGC |
S961G |
XP_016876117.1 |
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