Product Details
- SNP ID
-
rs199946070
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.14:36581266 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTGCGTGGGCGTGAGGCGAAGCAGG[A/C]TCGCCAGCTGCTCGCGCTCGGGCGC
- Phenotype
-
MIM: 603245
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
NKX2-8
PubMed Links
Gene Details
- Gene
- NKX2-8
- Gene Name
- NK2 homeobox 8
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_014360.3 |
581 |
Missense Mutation |
AGC,ATC |
S119I |
NP_055175.2 |
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