Product Details
- SNP ID
-
rs75597542
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.5:179616196 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCCCACTCAGCTGCTGGCTGGCTGG[A/G]CCCCCGTAGCTGGACTGGTTTGCTG
- Phenotype
-
MIM: 601035
MIM: 610327
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
HNRNPH1
PubMed Links
Gene Details
- Gene
- HNRNPH1
- Gene Name
- heterogeneous nuclear ribonucleoprotein H1 (H)
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001257293.1 |
1185 |
Silent Mutation |
GGC,GGT |
G410G |
NP_001244222.1 |
| NM_005520.2 |
1185 |
Intron |
|
|
NP_005511.1 |
| XM_005265895.2 |
1185 |
Silent Mutation |
GGC,GGT |
G410G |
XP_005265952.1 |
| XM_005265896.2 |
1185 |
Silent Mutation |
GGC,GGT |
G410G |
XP_005265953.1 |
| XM_005265901.1 |
1185 |
Silent Mutation |
GGC,GGT |
G209G |
XP_005265958.1 |
| XM_005265902.4 |
1185 |
Silent Mutation |
GGC,GGT |
G209G |
XP_005265959.1 |
| XM_006714862.2 |
1185 |
Silent Mutation |
GGC,GGT |
G390G |
XP_006714925.1 |
| XM_006714863.2 |
1185 |
Silent Mutation |
GGC,GGT |
G390G |
XP_006714926.1 |
| XM_011534542.1 |
1185 |
Silent Mutation |
GGC,GGT |
G410G |
XP_011532844.1 |
| XM_011534544.1 |
1185 |
Silent Mutation |
GGC,GGT |
G410G |
XP_011532846.1 |
| XM_011534545.1 |
1185 |
Silent Mutation |
GGC,GGT |
G410G |
XP_011532847.1 |
| XM_011534546.1 |
1185 |
Silent Mutation |
GGC,GGT |
G410G |
XP_011532848.1 |
| XM_011534547.1 |
1185 |
Silent Mutation |
GGC,GGT |
G400G |
XP_011532849.1 |
| XM_017009414.1 |
1185 |
Silent Mutation |
GGC,GGT |
G390G |
XP_016864903.1 |
| XM_017009415.1 |
1185 |
Silent Mutation |
GGC,GGT |
G410G |
XP_016864904.1 |
| XM_017009416.1 |
1185 |
Silent Mutation |
GGC,GGT |
G410G |
XP_016864905.1 |
| XM_017009417.1 |
1185 |
Silent Mutation |
GGC,GGT |
G410G |
XP_016864906.1 |
| XM_017009418.1 |
1185 |
Silent Mutation |
GGC,GGT |
G400G |
XP_016864907.1 |
| XM_017009419.1 |
1185 |
Silent Mutation |
GGC,GGT |
G390G |
XP_016864908.1 |
| XM_017009420.1 |
1185 |
Silent Mutation |
GGC,GGT |
G189G |
XP_016864909.1 |
| XM_017009421.1 |
1185 |
Silent Mutation |
GGC,GGT |
G209G |
XP_016864910.1 |
| XM_017009422.1 |
1185 |
Silent Mutation |
GGC,GGT |
G209G |
XP_016864911.1 |
| XM_017009423.1 |
1185 |
Silent Mutation |
GGC,GGT |
G199G |
XP_016864912.1 |
| XM_017009424.1 |
1185 |
Silent Mutation |
GGC,GGT |
G227G |
XP_016864913.1 |
| XM_017009425.1 |
1185 |
Intron |
|
|
XP_016864914.1 |
- Gene
- RUFY1
- Gene Name
- RUN and FYVE domain containing 1
There are no transcripts associated with this gene.
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