Product Details

SNP ID
rs4795087
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:35764059 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AAACGGAAGAGCTCCGGGCCGAGGA[C/G]GCGGAGCAAGAGGAAGGGAAGGAGG
Phenotype
MIM: 608417
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
C17orf50 PubMed Links

Gene Details

Gene
C17orf50
Gene Name
chromosome 17 open reading frame 50
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_145272.3 111 Missense Mutation GAC,GAG D22E NP_660315.2
Gene
MMP28
Gene Name
matrix metallopeptidase 28
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001032278.2 111 Intron NP_001027449.1
NM_024302.4 111 Intron NP_077278.1
NM_032950.3 111 Intron NP_116568.1
XM_011525225.1 111 Intron XP_011523527.1
XM_011525226.2 111 Intron XP_011523528.1
XM_011525227.1 111 Intron XP_011523529.1
XM_011525228.1 111 Intron XP_011523530.1
XM_011525229.2 111 Intron XP_011523531.1
XM_011525230.1 111 Intron XP_011523532.1
XM_011525231.1 111 Intron XP_011523533.1
XM_011525232.2 111 Intron XP_011523534.2
XM_017025061.1 111 Intron XP_016880550.1
XM_017025062.1 111 Intron XP_016880551.1
XM_017025063.1 111 Intron XP_016880552.1
XM_017025064.1 111 Intron XP_016880553.1

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