Product Details
- SNP ID
-
rs142731070
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:53940231 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCAACTGAAGGGCGCCGCTGGGTCA[A/G]GAAGACACCGGGGGCCATAGGTGTG
- Phenotype
-
MIM: 300560
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
PHF8
PubMed Links
Gene Details
- Gene
- PHF8
- Gene Name
- PHD finger protein 8
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001184896.1 |
3738 |
Silent Mutation |
CTG,TTG |
L1015L |
NP_001171825.1 |
| NM_001184897.1 |
3738 |
Silent Mutation |
CTG,TTG |
L878L |
NP_001171826.1 |
| NM_001184898.1 |
3738 |
Intron |
|
|
NP_001171827.1 |
| NM_015107.2 |
3738 |
Silent Mutation |
CTG,TTG |
L979L |
NP_055922.1 |
| XM_005261996.1 |
3738 |
Silent Mutation |
CTG,TTG |
L1015L |
XP_005262053.1 |
| XM_005261997.3 |
3738 |
Silent Mutation |
CTG,TTG |
L979L |
XP_005262054.1 |
| XM_005261999.1 |
3738 |
Silent Mutation |
CTG,TTG |
L979L |
XP_005262056.1 |
| XM_005262000.1 |
3738 |
Silent Mutation |
CTG,TTG |
L914L |
XP_005262057.1 |
| XM_011530778.1 |
3738 |
Silent Mutation |
CTG,TTG |
L1015L |
XP_011529080.1 |
| XM_017029361.1 |
3738 |
Silent Mutation |
CTG,TTG |
L979L |
XP_016884850.1 |
| XM_017029362.1 |
3738 |
Silent Mutation |
CTG,TTG |
L979L |
XP_016884851.1 |
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