Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGGCTGAGATGCGTCCCCACCTGA[C/T]TAGGCCCAAATCTGGGCTCCTCGTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 112260 MIM: 614579 MIM: 609176 MIM: 610962 | ||||||||||||||||||||
Literature Links: |
BGLAP PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
BGLAP - bone gamma-carboxyglutamate protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_199173.5 | 1341 | Intron | NP_954642.1 |
PAQR6 - progestin and adipoQ receptor family member 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001272104.1 | 1341 | UTR 3 | NP_001259033.1 | |||
NM_001272105.1 | 1341 | UTR 3 | NP_001259034.1 | |||
NM_001272106.1 | 1341 | Missense Mutation | AAT,AGT | N,S 221 | NP_001259035.1 | |
NM_001272107.1 | 1341 | UTR 3 | NP_001259036.1 | |||
NM_001272108.1 | 1341 | UTR 3 | NP_001259037.1 | |||
NM_001272109.1 | 1341 | Missense Mutation | AAT,AGT | N,S 149 | NP_001259038.1 | |
NM_001272110.1 | 1341 | Missense Mutation | AAT,AGT | N,S 149 | NP_001259039.1 | |
NM_001272111.1 | 1341 | Missense Mutation | AAT,AGT | N,S 149 | NP_001259040.1 | |
NM_001272112.1 | 1341 | Missense Mutation | AAT,AGT | N,S 149 | NP_001259041.1 | |
NM_001272113.1 | 1341 | Missense Mutation | AAT,AGT | N,S 149 | NP_001259042.1 | |
NM_024897.3 | 1341 | Missense Mutation | AAT,AGT | N,S 289 | NP_079173.2 | |
NM_198406.2 | 1341 | UTR 3 | NP_940798.1 | |||
XM_005245494.3 | 1341 | Missense Mutation | AAT,AGT | N,S 149 | XP_005245551.1 | |
XM_006711546.2 | 1341 | Missense Mutation | AAT,AGT | N,S 395 | XP_006711609.1 | |
XM_006711547.3 | 1341 | Missense Mutation | AAT,AGT | N,S 395 | XP_006711610.1 | |
XM_006711548.3 | 1341 | Missense Mutation | AAT,AGT | N,S 371 | XP_006711611.1 | |
XM_006711552.2 | 1341 | Missense Mutation | AAT,AGT | N,S 284 | XP_006711615.1 | |
XM_006711553.3 | 1341 | Missense Mutation | AAT,AGT | N,S 284 | XP_006711616.1 | |
XM_011510000.2 | 1341 | Missense Mutation | AAT,AGT | N,S 149 | XP_011508302.1 | |
XM_017002385.1 | 1341 | Missense Mutation | AAT,AGT | N,S 395 | XP_016857874.1 |
PMF1 - polyamine-modulated factor 1 | ||||||
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There are no transcripts associated with this gene. |
PMF1-BGLAP - PMF1-BGLAP readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199661.1 | 1341 | Intron | NP_001186590.1 | |||
NM_001199662.1 | 1341 | Intron | NP_001186591.1 | |||
NM_001199663.1 | 1341 | Intron | NP_001186592.1 | |||
NM_001199664.1 | 1341 | Intron | NP_001186593.1 |
SMG5 - SMG5, nonsense mediated mRNA decay factor | ||||||
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There are no transcripts associated with this gene. |