Product Details
- SNP ID
-
rs199597670
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:1783188 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTGGGAGAAAGCATAGCTGGAACGG[C/T]GGGCACGAGACTCCCGGTGTACATG
- Phenotype
-
MIM: 605866
MIM: 611294
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ATP8B3
PubMed Links
Gene Details
- Gene
- ATP8B3
- Gene Name
- ATPase phospholipid transporting 8B3
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001178002.2 |
3799 |
Missense Mutation |
CAC,CGC |
H1211R |
NP_001171473.1 |
| NM_138813.3 |
3799 |
Missense Mutation |
CAC,CGC |
H1248R |
NP_620168.1 |
| XM_006722654.2 |
3799 |
Missense Mutation |
CAC,CGC |
H1258R |
XP_006722717.1 |
| XM_006722655.2 |
3799 |
Missense Mutation |
CAC,CGC |
H1258R |
XP_006722718.1 |
| XM_006722656.2 |
3799 |
Missense Mutation |
CAC,CGC |
H1172R |
XP_006722719.1 |
| XM_011527707.1 |
3799 |
Missense Mutation |
CAC,CGC |
H1249R |
XP_011526009.1 |
| XM_011527708.1 |
3799 |
Missense Mutation |
CAC,CGC |
H1218R |
XP_011526010.1 |
| XM_011527709.1 |
3799 |
Missense Mutation |
CAC,CGC |
H1187R |
XP_011526011.1 |
| XM_011527710.2 |
3799 |
Missense Mutation |
CAC,CGC |
H1006R |
XP_011526012.1 |
| XM_011527711.2 |
3799 |
Intron |
|
|
XP_011526013.1 |
| XM_011527712.1 |
3799 |
Missense Mutation |
CAC,CGC |
H638R |
XP_011526014.1 |
- Gene
- ONECUT3
- Gene Name
- one cut homeobox 3
There are no transcripts associated with this gene.
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