Product Details

SNP ID

rs189957556

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:156244804 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGTGCCAGCCTTTCAGGCAGGTG[C/G]GAGGCGAAGAGGAAGCCAGTGAGCA

Phenotype

MIM: 112260 MIM: 614579 MIM: 609176 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001272104.1	945	Silent Mutation	TCC,TCG	S239S	NP_001259033.1
NM_001272105.1	945	Silent Mutation	TCC,TCG	S236S	NP_001259034.1
NM_001272106.1	945	Intron			NP_001259035.1
NM_001272107.1	945	Silent Mutation	TCC,TCG	S133S	NP_001259036.1
NM_001272108.1	945	Silent Mutation	TCC,TCG	S128S	NP_001259037.1
NM_001272109.1	945	Missense Mutation	CCC,CGC	P17R	NP_001259038.1
NM_001272110.1	945	Missense Mutation	CCC,CGC	P17R	NP_001259039.1
NM_001272111.1	945	Missense Mutation	CCC,CGC	P17R	NP_001259040.1
NM_001272112.1	945	Missense Mutation	CCC,CGC	P17R	NP_001259041.1
NM_001272113.1	945	Missense Mutation	CCC,CGC	P17R	NP_001259042.1
NM_024897.3	945	Silent Mutation	TCC,TCG	S133S	NP_079173.2
NM_198406.2	945	Silent Mutation	TCC,TCG	S239S	NP_940798.1
XM_005245494.3	945	Missense Mutation	CCC,CGC	P17R	XP_005245551.1
XM_006711546.2	945	Silent Mutation	TCC,TCG	S239S	XP_006711609.1
XM_006711547.3	945	Silent Mutation	TCC,TCG	S239S	XP_006711610.1
XM_006711548.3	945	Silent Mutation	TCC,TCG	S215S	XP_006711611.1
XM_006711552.2	945	Silent Mutation	TCC,TCG	S128S	XP_006711615.1
XM_006711553.3	945	Silent Mutation	TCC,TCG	S128S	XP_006711616.1
XM_011510000.2	945	Missense Mutation	CCC,CGC	P17R	XP_011508302.1
XM_017002385.1	945	Silent Mutation	TCC,TCG	S239S	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

There are no transcripts associated with this gene.

Gene

SMG5

Gene Name

SMG5, nonsense mediated mRNA decay factor

There are no transcripts associated with this gene.

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