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AATTTCCAGGTACTCAGATGGAGTC[A/T]CCAGCAAGAAAGGCCCACAGCACAT
Species: |
Human | ||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
TMEM130 PubMed Links | ||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global - Not Available | Caucasian - Not Available | CEPH (CEU)
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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)
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EUR - Not Available | |||||
AMR - Not Available |
TMEM130 - transmembrane protein 130 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001134450.1 | 1067 | Missense Mutation | GAG,GTG | E,V 407 | NP_001127922.1 | |
NM_001134451.1 | 1067 | Missense Mutation | GAG,GTG | E,V 293 | NP_001127923.1 | |
NM_152913.2 | 1067 | Missense Mutation | GAG,GTG | E,V 395 | NP_690877.1 |
Set Membership: |
HapMap |