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TTGACTGAGACGACGAAATTGTAAT[C/T]CTTGTTCAGAGAGTTTCTCAGACAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600378 MIM: 614918 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
IMMT 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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IMMT - inner membrane mitochondrial protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001100169.1 | 1947 | Missense Mutation | GAA,GGA | E,G 520 | NP_001093639.1 | |
NM_001100170.1 | 1947 | Missense Mutation | GAA,GGA | E,G 510 | NP_001093640.1 | |
NM_006839.2 | 1947 | Missense Mutation | GAA,GGA | E,G 521 | NP_006830.2 | |
XM_005264110.3 | 1947 | Intron | XP_005264167.1 | |||
XM_005264113.1 | 1947 | Intron | XP_005264170.1 | |||
XM_005264114.1 | 1947 | Intron | XP_005264171.1 | |||
XM_011532497.2 | 1947 | Intron | XP_011530799.1 | |||
XM_017003194.1 | 1947 | Intron | XP_016858683.1 | |||
XM_017003195.1 | 1947 | Intron | XP_016858684.1 |
PTCD3 - pentatricopeptide repeat domain 3 | ||||||
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There are no transcripts associated with this gene. |