Product Details
- SNP ID
-
hCV27863827
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.1:173903899 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AAGAATAAGAACATTTTACTTAACA[A/C]AAGGGTTGGCTACTCTGCCCATGAA
- Phenotype
-
MIM: 107300
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
SERPINC1
PubMed Links
Gene Details
- Gene
- SERPINC1
- Gene Name
- serpin family C member 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_000488.3 |
1504 |
Missense Mutation |
TGT,TTT |
C462F |
NP_000479.1 |
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