Product Details

SNP ID
rs200792947
Assay Type
Functionally tested
NCBI dbSNP Submissions
11
Location
Chr.1:156242787 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTTGTGTCCAAGCAGGAGGGCAG[C/T]GAGGTAGTGAAGAGACCCAGGCGCT
Phenotype
MIM: 112260 MIM: 614579 MIM: 609176 MIM: 610962
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BGLAP PubMed Links

Gene Details

Gene
BGLAP
Gene Name
bone gamma-carboxyglutamate protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_199173.5 461 Silent Mutation AGC,AGT S43S NP_954642.1
Gene
PAQR6
Gene Name
progestin and adipoQ receptor family member 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001272104.1 461 Intron NP_001259033.1
NM_001272105.1 461 Intron NP_001259034.1
NM_001272106.1 461 Intron NP_001259035.1
NM_001272107.1 461 Intron NP_001259036.1
NM_001272108.1 461 Intron NP_001259037.1
NM_001272109.1 461 Intron NP_001259038.1
NM_001272110.1 461 Intron NP_001259039.1
NM_001272111.1 461 Intron NP_001259040.1
NM_001272112.1 461 Intron NP_001259041.1
NM_001272113.1 461 Intron NP_001259042.1
NM_024897.3 461 Intron NP_079173.2
NM_198406.2 461 Intron NP_940798.1
XM_005245494.3 461 Intron XP_005245551.1
XM_006711546.2 461 Intron XP_006711609.1
XM_006711547.3 461 Intron XP_006711610.1
XM_006711548.3 461 Intron XP_006711611.1
XM_006711552.2 461 Intron XP_006711615.1
XM_006711553.3 461 Intron XP_006711616.1
XM_011510000.2 461 Intron XP_011508302.1
XM_017002385.1 461 Intron XP_016857874.1
Gene
PMF1
Gene Name
polyamine-modulated factor 1
There are no transcripts associated with this gene.

Gene
PMF1-BGLAP
Gene Name
PMF1-BGLAP readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199661.1 461 Nonsense Mutation CGA,TGA R190* NP_001186590.1
NM_001199662.1 461 Missense Mutation GCG,GTG A210V NP_001186591.1
NM_001199663.1 461 Nonsense Mutation CGA,TGA R145* NP_001186592.1
NM_001199664.1 461 Missense Mutation GCG,GTG A141V NP_001186593.1
Gene
SMG5
Gene Name
SMG5, nonsense mediated mRNA decay factor
There are no transcripts associated with this gene.

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