Product Details

SNP ID
rs3176294
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:22045994 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTATGGCCATATGCCCACTTCAC[G/T]CTGCAGGACAAGTGGCCTGTCCCCA
Phenotype
MIM: 125305 MIM: 603725 MIM: 608073
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
DMTN PubMed Links

Gene Details

Gene
DMTN
Gene Name
dematin actin binding protein
There are no transcripts associated with this gene.

Gene
FGF17
Gene Name
fibroblast growth factor 17
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304478.1 1323 Intron NP_001291407.1
NM_003867.3 1323 Intron NP_003858.1
XM_005273675.1 1323 Missense Mutation GCT,TCT A8S XP_005273732.1
XM_011544683.1 1323 Intron XP_011542985.1
XM_011544684.2 1323 Intron XP_011542986.1
XM_011544685.1 1323 Intron XP_011542987.1
Gene
NPM2
Gene Name
nucleophosmin/nucleoplasmin 2
There are no transcripts associated with this gene.

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