Product Details
- SNP ID
-
hCV27328139
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.13:20188941 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGACTTCCCAGAACAATATCTAATT[A/G]GCAAATAACACAATTCAGTGACATT
- Phenotype
-
MIM: 121011
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
GJB2
PubMed Links
Gene Details
- Gene
- GJB2
- Gene Name
- gap junction protein beta 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_004004.5 |
856 |
Missense Mutation |
CCA,CTA |
P214L |
NP_003995.2 |
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