Product Details

SNP ID

rs138891927

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:156244210 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTACTGGGGGCCCGAAGCAGGGT[A/G]GCTGTGAAAGCAGCAATAATGAGTA

Phenotype

MIM: 112260 MIM: 614579 MIM: 609176 MIM: 610962

Polymorphism

A/G, 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	1182	Intron			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	1182	Silent Mutation	GCC,GCT	A318A	NP_001259033.1
NM_001272105.1	1182	Silent Mutation	GCC,GCT	A315A	NP_001259034.1
NM_001272106.1	1182	Missense Mutation	CCA,CTA	P168L	NP_001259035.1
NM_001272107.1	1182	Silent Mutation	GCC,GCT	A212A	NP_001259036.1
NM_001272108.1	1182	Silent Mutation	GCC,GCT	A207A	NP_001259037.1
NM_001272109.1	1182	Missense Mutation	CCA,CTA	P96L	NP_001259038.1
NM_001272110.1	1182	Missense Mutation	CCA,CTA	P96L	NP_001259039.1
NM_001272111.1	1182	Missense Mutation	CCA,CTA	P96L	NP_001259040.1
NM_001272112.1	1182	Missense Mutation	CCA,CTA	P96L	NP_001259041.1
NM_001272113.1	1182	Missense Mutation	CCA,CTA	P96L	NP_001259042.1
NM_024897.3	1182	Missense Mutation	CCA,CTA	P236L	NP_079173.2
NM_198406.2	1182	Silent Mutation	GCC,GCT	A318A	NP_940798.1
XM_005245494.3	1182	Missense Mutation	CCA,CTA	P96L	XP_005245551.1
XM_006711546.2	1182	Missense Mutation	CCA,CTA	P342L	XP_006711609.1
XM_006711547.3	1182	Missense Mutation	CCA,CTA	P342L	XP_006711610.1
XM_006711548.3	1182	Missense Mutation	CCA,CTA	P318L	XP_006711611.1
XM_006711552.2	1182	Missense Mutation	CCA,CTA	P231L	XP_006711615.1
XM_006711553.3	1182	Missense Mutation	CCA,CTA	P231L	XP_006711616.1
XM_011510000.2	1182	Missense Mutation	CCA,CTA	P96L	XP_011508302.1
XM_017002385.1	1182	Missense Mutation	CCA,CTA	P342L	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	1182	Intron			NP_001186590.1
NM_001199662.1	1182	Intron			NP_001186591.1
NM_001199663.1	1182	Intron			NP_001186592.1
NM_001199664.1	1182	Intron			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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