Product Details
- SNP ID
-
rs184179934
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.10:87756793 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AATCAAGTCAAAATAACATACCTTT[C/T]TTCTGATGTAGAATTAACATATTCT
- Phenotype
-
MIM: 614452
MIM: 603005
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ATAD1
PubMed Links
Gene Details
- Gene
- ATAD1
- Gene Name
- ATPase family, AAA domain containing 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001321967.1 |
1129 |
Missense Mutation |
AAA,GAA |
K321E |
NP_001308896.1 |
NM_001321968.1 |
1129 |
Missense Mutation |
AAA,GAA |
K291E |
NP_001308897.1 |
NM_001321969.1 |
1129 |
Missense Mutation |
AAA,GAA |
K202E |
NP_001308898.1 |
NM_032810.3 |
1129 |
Missense Mutation |
AAA,GAA |
K321E |
NP_116199.2 |
XM_005270252.4 |
1129 |
Missense Mutation |
AAA,GAA |
K321E |
XP_005270309.1 |
XM_011540302.1 |
1129 |
Missense Mutation |
AAA,GAA |
K263E |
XP_011538604.1 |
XM_011540303.2 |
1129 |
Intron |
|
|
XP_011538605.1 |
XM_017016847.1 |
1129 |
Missense Mutation |
AAA,GAA |
K321E |
XP_016872336.1 |
XM_017016848.1 |
1129 |
Missense Mutation |
AAA,GAA |
K291E |
XP_016872337.1 |
XM_017016849.1 |
1129 |
Missense Mutation |
AAA,GAA |
K202E |
XP_016872338.1 |
XM_017016850.1 |
1129 |
Missense Mutation |
AAA,GAA |
K202E |
XP_016872339.1 |
XM_017016851.1 |
1129 |
Intron |
|
|
XP_016872340.1 |
- Gene
- PAPSS2
- Gene Name
- 3'-phosphoadenosine 5'-phosphosulfate synthase 2
There are no transcripts associated with this gene.
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