Product Details

SNP ID: rs200615218
Assay Type: Functionally tested
NCBI dbSNP Submissions: 13
Location: Chr.1:156250989 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGTTTGCAGCTGTCTAGGATCTTAT[A/G]GAGAGTCCTGGGGATGGGGGGCAGA
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	2931	Missense Mutation	CAT,TAT	H893Y	NP_001310543.1
NM_001323615.1	2931	Missense Mutation	CAT,TAT	H900Y	NP_001310544.1
NM_001323616.1	2931	Missense Mutation	CAT,TAT	H880Y	NP_001310545.1
NM_001323617.1	2931	Missense Mutation	CAT,TAT	H880Y	NP_001310546.1
NM_015327.2	2931	Missense Mutation	CAT,TAT	H946Y	NP_056142.2
XM_017000842.1	2931	Missense Mutation	CAT,TAT	H734Y	XP_016856331.1
XM_017000843.1	2931	Missense Mutation	CAT,TAT	H685Y	XP_016856332.1

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