Product Details
- SNP ID
-
rs185252611
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:36501218 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATGAGAGGTTCAAGCGTGGCTTCCT[C/T]GCTGTGTGGACACCATTCTGGGGGA
- Phenotype
-
MIM: 604500
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
MYO19
PubMed Links
Gene Details
- Gene
- MYO19
- Gene Name
- myosin XIX
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001033580.2 |
2751 |
Intron |
|
|
NP_001028752.1 |
| NM_001163735.1 |
2751 |
Missense Mutation |
AAG,GAG |
K700E |
NP_001157207.1 |
| NM_025109.5 |
2751 |
Missense Mutation |
AAG,GAG |
K500E |
NP_079385.2 |
| XM_011525286.1 |
2751 |
Missense Mutation |
AAG,GAG |
K777E |
XP_011523588.1 |
| XM_011525287.1 |
2751 |
Missense Mutation |
AAG,GAG |
K775E |
XP_011523589.1 |
| XM_011525290.2 |
2751 |
Missense Mutation |
AAG,GAG |
K731E |
XP_011523592.1 |
| XM_017025157.1 |
2751 |
Missense Mutation |
AAG,GAG |
K777E |
XP_016880646.1 |
| XM_017025158.1 |
2751 |
Missense Mutation |
AAG,GAG |
K746E |
XP_016880647.1 |
| XM_017025159.1 |
2751 |
Missense Mutation |
AAG,GAG |
K733E |
XP_016880648.1 |
| XM_017025160.1 |
2751 |
Missense Mutation |
AAG,GAG |
K777E |
XP_016880649.1 |
| XM_017025161.1 |
2751 |
Missense Mutation |
AAG,GAG |
K584E |
XP_016880650.1 |
- Gene
- ZNHIT3
- Gene Name
- zinc finger HIT-type containing 3
There are no transcripts associated with this gene.
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