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GGTGGAAATGCACTCCCGGAGGTCC[C/T]CGTCATCCCCGGCCTTGCGCAGGAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
PNMAL2 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 |
PNMAL2 - paraneoplastic Ma antigen family-like 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020709.2 | 1673 | Missense Mutation | GAG,GGG | E,G 409 | NP_065760.1 |
PPP5D1 - PPP5 tetratricopeptide repeat domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001205281.1 | 1673 | Intron | NP_001192210.1 | |||
XM_005258397.3 | 1673 | Intron | XP_005258454.1 | |||
XM_006722960.3 | 1673 | Intron | XP_006723023.1 | |||
XM_017026125.1 | 1673 | Intron | XP_016881614.1 |