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ATTCTTTGCAGTGGGAGAGCAGTTC[A/G]GCATCTTCTTAGGGCAGGCAGGACC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
GRAMD2 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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GRAMD2 - GRAM domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001012642.2 | 1044 | Missense Mutation | CCG,CTG | P,L 279 | NP_001012660.1 | |
XM_011521327.2 | 1044 | Missense Mutation | CCG,CTG | P,L 278 | XP_011519629.1 | |
XM_011521328.2 | 1044 | Missense Mutation | CCG,CTG | P,L 277 | XP_011519630.1 | |
XM_011521329.2 | 1044 | Missense Mutation | CCG,CTG | P,L 269 | XP_011519631.1 | |
XM_011521330.2 | 1044 | Missense Mutation | CCG,CTG | P,L 267 | XP_011519632.1 | |
XM_011521331.2 | 1044 | Missense Mutation | CCG,CTG | P,L 260 | XP_011519633.1 | |
XM_011521332.2 | 1044 | Missense Mutation | CCG,CTG | P,L 243 | XP_011519634.1 | |
XM_011521333.2 | 1044 | Missense Mutation | CCG,CTG | P,L 243 | XP_011519635.1 | |
XM_017021997.1 | 1044 | Missense Mutation | CCG,CTG | P,L 241 | XP_016877486.1 | |
XM_017021998.1 | 1044 | Missense Mutation | CCG,CTG | P,L 241 | XP_016877487.1 |