Product Details

SNP ID
rs146257491
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:156252999 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGGAGATGGTGGCAGAGGGCCTGG[C/G]TGTCAGGGACGAGGTAGGGAGACAT
Phenotype
MIM: 112260 MIM: 614579 MIM: 610962
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
BGLAP PubMed Links

Gene Details

Gene
BGLAP
Gene Name
bone gamma-carboxyglutamate protein
There are no transcripts associated with this gene.

Gene
PAQR6
Gene Name
progestin and adipoQ receptor family member 6
There are no transcripts associated with this gene.

Gene
PMF1-BGLAP
Gene Name
PMF1-BGLAP readthrough
There are no transcripts associated with this gene.

Gene
SMG5
Gene Name
SMG5, nonsense mediated mRNA decay factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001323614.1 2677 Missense Mutation ACC,AGC T808S NP_001310543.1
NM_001323615.1 2677 Missense Mutation ACC,AGC T815S NP_001310544.1
NM_001323616.1 2677 Missense Mutation ACC,AGC T795S NP_001310545.1
NM_001323617.1 2677 Missense Mutation ACC,AGC T795S NP_001310546.1
NM_015327.2 2677 Missense Mutation ACC,AGC T861S NP_056142.2
XM_017000842.1 2677 Missense Mutation ACC,AGC T649S XP_016856331.1
XM_017000843.1 2677 Missense Mutation ACC,AGC T600S XP_016856332.1

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