Product Details
- SNP ID
-
rs113944067
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:81120546 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGGTGCCTGGGCCCCCCATCCGCTT[G/T]TGTGGGGCCGGCCCTGACAACAGTC
- Phenotype
-
MIM: 605276
MIM: 605475
MIM: 614059
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
AATK
PubMed Links
Gene Details
- Gene
- AATK
- Gene Name
- apoptosis associated tyrosine kinase
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001080395.2 |
3315 |
Missense Mutation |
CAA,CAC |
Q1130H |
NP_001073864.2 |
| NM_004920.2 |
3315 |
Missense Mutation |
CAA,CAC |
Q1027H |
NP_004911.2 |
| XM_006722193.2 |
3315 |
Missense Mutation |
CAA,CAC |
Q1082H |
XP_006722256.1 |
| XM_006722194.2 |
3315 |
Missense Mutation |
CAA,CAC |
Q1080H |
XP_006722257.1 |
| XM_006722195.2 |
3315 |
Missense Mutation |
CAA,CAC |
Q963H |
XP_006722258.1 |
| XM_006722196.2 |
3315 |
Missense Mutation |
CAA,CAC |
Q1082H |
XP_006722259.1 |
| XM_011525509.2 |
3315 |
Missense Mutation |
CAA,CAC |
Q1089H |
XP_011523811.1 |
| XM_011525510.2 |
3315 |
Missense Mutation |
CAA,CAC |
Q1074H |
XP_011523812.1 |
| XM_011525511.2 |
3315 |
Missense Mutation |
CAA,CAC |
Q908H |
XP_011523813.1 |
| XM_017025421.1 |
3315 |
Missense Mutation |
CAA,CAC |
Q1027H |
XP_016880910.1 |
| XM_017025422.1 |
3315 |
Missense Mutation |
CAA,CAC |
Q908H |
XP_016880911.1 |
- Gene
- BAIAP2
- Gene Name
- BAI1 associated protein 2
There are no transcripts associated with this gene.
- Gene
- MIR3065
- Gene Name
- microRNA 3065
There are no transcripts associated with this gene.
- Gene
- MIR338
- Gene Name
- microRNA 338
There are no transcripts associated with this gene.
- Gene
- MIR657
- Gene Name
- microRNA 657
There are no transcripts associated with this gene.
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