Product Details

SNP ID
rs111839421
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:23253325 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATACAGGATTTCATGATGTGCTGG[G/T]CAATGAAAGACCTTCTGCTTACATG
Phenotype
MIM: 604368
Polymorphism
G/T, Transversion 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_001005340.1 741 Missense Mutation GGC,GTC G30V NP_001005340.1
NM_002510.2 741 Missense Mutation GGC,GTC G30V NP_002501.1
XM_005249578.2 741 Missense Mutation GGC,GTC G30V XP_005249635.1
XM_017011676.1 741 Missense Mutation GGC,GTC G30V XP_016867165.1
XM_017011677.1 741 Missense Mutation GGC,GTC G30V XP_016867166.1
XM_017011678.1 741 Missense Mutation GGC,GTC G30V XP_016867167.1

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