Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTCCCGACTCTTAAACTTCAAAACC[A/G]CATAGTTATATGTAGTAGCCATCAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300051 MIM: 300170 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GPM6B PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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GPM6B - glycoprotein M6B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001001994.2 | 1207 | Missense Mutation | GCG,GTG | A,V 232 | NP_001001994.1 | |
NM_001001995.2 | 1207 | Intron | NP_001001995.1 | |||
NM_001001996.2 | 1207 | Missense Mutation | GCG,GTG | A,V 291 | NP_001001996.1 | |
NM_001318729.1 | 1207 | Intron | NP_001305658.1 | |||
NM_005278.4 | 1207 | Missense Mutation | GCG,GTG | A,V 251 | NP_005269.1 | |
XM_005274489.4 | 1207 | Intron | XP_005274546.1 | |||
XM_011545497.2 | 1207 | Intron | XP_011543799.1 | |||
XM_017029432.1 | 1207 | Missense Mutation | GCG,GTG | A,V 272 | XP_016884921.1 | |
XM_017029433.1 | 1207 | Intron | XP_016884922.1 | |||
XM_017029434.1 | 1207 | Missense Mutation | GCG,GTG | A,V 165 | XP_016884923.1 |
OFD1 - OFD1, centriole and centriolar satellite protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003611.2 | 1207 | Intron | NP_003602.1 |