Product Details
- SNP ID
-
rs104894941
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:154412129 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCGTGCACAACAGGGAGGTGCTGTA[C/G]GAGCTCATCGAGAAGCGAGGCCCGG
- Phenotype
-
MIM: 300081
MIM: 312173
MIM: 300394
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
DNASE1L1
PubMed Links
Gene Details
- Gene
- DNASE1L1
- Gene Name
- deoxyribonuclease I-like 1
- Gene
- RPL10
- Gene Name
- ribosomal protein L10
There are no transcripts associated with this gene.
- Gene
- TAZ
- Gene Name
- tafazzin
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000116.4 |
479 |
Nonsense Mutation |
TAC,TAG |
Y51* |
NP_000107.1 |
| NM_001303465.1 |
479 |
Nonsense Mutation |
TAC,TAG |
Y69* |
NP_001290394.1 |
| NM_181311.3 |
479 |
Nonsense Mutation |
TAC,TAG |
Y51* |
NP_851828.1 |
| NM_181312.3 |
479 |
Nonsense Mutation |
TAC,TAG |
Y51* |
NP_851829.1 |
| NM_181313.3 |
479 |
Nonsense Mutation |
TAC,TAG |
Y51* |
NP_851830.1 |
| XM_006724836.1 |
479 |
Nonsense Mutation |
TAC,TAG |
Y69* |
XP_006724899.1 |
| XM_006724837.1 |
479 |
Nonsense Mutation |
TAC,TAG |
Y69* |
XP_006724900.1 |
| XM_006724839.1 |
479 |
Nonsense Mutation |
TAC,TAG |
Y69* |
XP_006724902.1 |
| XM_006724841.3 |
479 |
UTR 5 |
|
|
XP_006724904.1 |
| XM_006724842.3 |
479 |
UTR 5 |
|
|
XP_006724905.1 |
| XM_011531189.1 |
479 |
Nonsense Mutation |
TAC,TAG |
Y69* |
XP_011529491.1 |
| XM_011531191.2 |
479 |
Intron |
|
|
XP_011529493.1 |
| XM_017029761.1 |
479 |
Nonsense Mutation |
TAC,TAG |
Y51* |
XP_016885250.1 |
| XM_017029762.1 |
479 |
Nonsense Mutation |
TAC,TAG |
Y69* |
XP_016885251.1 |
| XM_017029763.1 |
479 |
Nonsense Mutation |
TAC,TAG |
Y51* |
XP_016885252.1 |
| XM_017029764.1 |
479 |
Intron |
|
|
XP_016885253.1 |
| XM_017029765.1 |
479 |
UTR 5 |
|
|
XP_016885254.1 |
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