Product Details

SNP ID
rs199840471
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:23253427 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAAAACTCTACCCAGTGTGGAAGC[A/G]GGGAGACATGAGGTGGAAAAACTCC
Phenotype
MIM: 604368
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GPNMB PubMed Links

Gene Details

Gene
GPNMB
Gene Name
glycoprotein nmb
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001005340.1 843 Missense Mutation CAG,CGG Q64R NP_001005340.1
NM_002510.2 843 Missense Mutation CAG,CGG Q64R NP_002501.1
XM_005249578.2 843 Missense Mutation CAG,CGG Q64R XP_005249635.1
XM_017011676.1 843 Missense Mutation CAG,CGG Q64R XP_016867165.1
XM_017011677.1 843 Missense Mutation CAG,CGG Q64R XP_016867166.1
XM_017011678.1 843 Missense Mutation CAG,CGG Q64R XP_016867167.1

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