Product Details

SNP ID
rs199712390
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:16005948 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGCTGGCTGGCCATCAGAAGACC[A/G]TCCCCACGGCTCACCTGACTTTTGT
Phenotype
MIM: 610692
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C1orf64 PubMed Links

Gene Details

Gene
C1orf64
Gene Name
chromosome 1 open reading frame 64
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_178840.3 180 Missense Mutation ATC,GTC I38V NP_849162.1
Gene
HSPB7
Gene Name
heat shock protein family B (small) member 7
There are no transcripts associated with this gene.

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