Product Details
- SNP ID
-
rs190187490
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:40742550 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CAGTGGCCCGTGAGGGCGAGAAGTC[C/T]GTCAGCTGCAGGTTGCTCTCCCGGA
- Phenotype
-
MIM: 606476
MIM: 182285
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
C19orf54
PubMed Links
Gene Details
- Gene
- C19orf54
- Gene Name
- chromosome 19 open reading frame 54
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_198476.3 |
962 |
Silent Mutation |
ACA,ACG |
T313T |
NP_940878.3 |
| XM_005258776.4 |
962 |
UTR 3 |
|
|
XP_005258833.1 |
| XM_005258778.4 |
962 |
Silent Mutation |
ACA,ACG |
T141T |
XP_005258835.1 |
| XM_006723152.2 |
962 |
UTR 3 |
|
|
XP_006723215.1 |
| XM_006723153.2 |
962 |
UTR 3 |
|
|
XP_006723216.1 |
| XM_011526774.2 |
962 |
Silent Mutation |
ACA,ACG |
T313T |
XP_011525076.1 |
| XM_011526775.1 |
962 |
Silent Mutation |
ACA,ACG |
T313T |
XP_011525077.1 |
| XM_011526776.2 |
962 |
Intron |
|
|
XP_011525078.1 |
| XM_011526777.2 |
962 |
Silent Mutation |
ACA,ACG |
T313T |
XP_011525079.1 |
| XM_011526778.2 |
962 |
Intron |
|
|
XP_011525080.1 |
| XM_011526779.2 |
962 |
Intron |
|
|
XP_011525081.1 |
| XM_011526782.2 |
962 |
Intron |
|
|
XP_011525084.1 |
| XM_011526783.2 |
962 |
Intron |
|
|
XP_011525085.1 |
| XM_011526784.2 |
962 |
Silent Mutation |
ACA,ACG |
T175T |
XP_011525086.1 |
| XM_011526785.2 |
962 |
Silent Mutation |
ACA,ACG |
T141T |
XP_011525087.1 |
| XM_011526786.2 |
962 |
Intron |
|
|
XP_011525088.1 |
| XM_017026620.1 |
962 |
Intron |
|
|
XP_016882109.1 |
| XM_017026621.1 |
962 |
Silent Mutation |
ACA,ACG |
T313T |
XP_016882110.1 |
| XM_017026622.1 |
962 |
Intron |
|
|
XP_016882111.1 |
| XM_017026623.1 |
962 |
Intron |
|
|
XP_016882112.1 |
| XM_017026624.1 |
962 |
Silent Mutation |
ACA,ACG |
T175T |
XP_016882113.1 |
| XM_017026625.1 |
962 |
Intron |
|
|
XP_016882114.1 |
| XM_017026626.1 |
962 |
Silent Mutation |
ACA,ACG |
T175T |
XP_016882115.1 |
| XM_017026627.1 |
962 |
Silent Mutation |
ACA,ACG |
T141T |
XP_016882116.1 |
- Gene
- ITPKC
- Gene Name
- inositol-trisphosphate 3-kinase C
There are no transcripts associated with this gene.
- Gene
- SNRPA
- Gene Name
- small nuclear ribonucleoprotein polypeptide A
There are no transcripts associated with this gene.
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