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GGGCCCGGCTCCCCCGGCCGTGCGG[G/T]ACCGTTGGGGCCGAGCGCCGCTGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607429 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PDSS1 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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PDSS1 - prenyl (decaprenyl) diphosphate synthase, subunit 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001321978.1 | 377 | Missense Mutation | GGA,GTA | G,V 30 | NP_001308907.1 | |
NM_001321979.1 | 377 | UTR 5 | NP_001308908.1 | |||
NM_014317.4 | 377 | Missense Mutation | GGA,GTA | G,V 30 | NP_055132.2 | |
XM_011519437.2 | 377 | Intron | XP_011517739.1 | |||
XM_017016011.1 | 377 | Intron | XP_016871500.1 |