Product Details
- SNP ID
-
hCV27864895
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.1:171636262 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AATGGCACCTTTGGCCTCATCGGTG[C/T]TGTAAATGACCCAGAGGCCTGCTTC
- Phenotype
-
MIM: 601652
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
MYOC
PubMed Links
Gene Details
- Gene
- MYOC
- Gene Name
- myocilin
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000261.1 |
1200 |
Missense Mutation |
AAC,AGC |
N393S |
NP_000252.1 |
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