Product Details

SNP ID: rs149802696
Assay Type: Functionally tested
NCBI dbSNP Submissions: 2
Location: Chr.1:156250649 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACATTCTTGATGTCCACACTGGCGT[A/G]GGCAGCGGCCTGCAGGGCTGCCTGT
Phenotype: MIM: 112260 MIM: 614579 MIM: 610962
Polymorphism: A/G, Transition 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	3084	Missense Mutation	CAC,TAC	H944Y	NP_001310543.1
NM_001323615.1	3084	Missense Mutation	CAC,TAC	H951Y	NP_001310544.1
NM_001323616.1	3084	Missense Mutation	CAC,TAC	H931Y	NP_001310545.1
NM_001323617.1	3084	Missense Mutation	CAC,TAC	H931Y	NP_001310546.1
NM_015327.2	3084	Missense Mutation	CAC,TAC	H997Y	NP_056142.2
XM_017000842.1	3084	Missense Mutation	CAC,TAC	H785Y	XP_016856331.1
XM_017000843.1	3084	Missense Mutation	CAC,TAC	H736Y	XP_016856332.1

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