Product Details
- SNP ID
-
rs199911297
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
16
- Location
-
Chr.1:156244884 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTGCTCAGGGCCTCCTGCCCACAGC[C/T]GTGGCCCCTGCCCCAGCACAGCCCG
- Phenotype
-
MIM: 112260
MIM: 614579
MIM: 609176
MIM: 610962
- Polymorphism
- C/T, 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
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001272104.1 |
865 |
Missense Mutation |
AGC,GGC |
S213G |
NP_001259033.1 |
| NM_001272105.1 |
865 |
Missense Mutation |
AGC,GGC |
S210G |
NP_001259034.1 |
| NM_001272106.1 |
865 |
Intron |
|
|
NP_001259035.1 |
| NM_001272107.1 |
865 |
Missense Mutation |
AGC,GGC |
S107G |
NP_001259036.1 |
| NM_001272108.1 |
865 |
Missense Mutation |
AGC,GGC |
S102G |
NP_001259037.1 |
| NM_001272109.1 |
865 |
UTR 5 |
|
|
NP_001259038.1 |
| NM_001272110.1 |
865 |
UTR 5 |
|
|
NP_001259039.1 |
| NM_001272111.1 |
865 |
UTR 5 |
|
|
NP_001259040.1 |
| NM_001272112.1 |
865 |
UTR 5 |
|
|
NP_001259041.1 |
| NM_001272113.1 |
865 |
UTR 5 |
|
|
NP_001259042.1 |
| NM_024897.3 |
865 |
Missense Mutation |
AGC,GGC |
S107G |
NP_079173.2 |
| NM_198406.2 |
865 |
Missense Mutation |
AGC,GGC |
S213G |
NP_940798.1 |
| XM_005245494.3 |
865 |
UTR 5 |
|
|
XP_005245551.1 |
| XM_006711546.2 |
865 |
Missense Mutation |
AGC,GGC |
S213G |
XP_006711609.1 |
| XM_006711547.3 |
865 |
Missense Mutation |
AGC,GGC |
S213G |
XP_006711610.1 |
| XM_006711548.3 |
865 |
Missense Mutation |
AGC,GGC |
S189G |
XP_006711611.1 |
| XM_006711552.2 |
865 |
Missense Mutation |
AGC,GGC |
S102G |
XP_006711615.1 |
| XM_006711553.3 |
865 |
Missense Mutation |
AGC,GGC |
S102G |
XP_006711616.1 |
| XM_011510000.2 |
865 |
UTR 5 |
|
|
XP_011508302.1 |
| XM_017002385.1 |
865 |
Missense Mutation |
AGC,GGC |
S213G |
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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