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GAATTTCAACAAAAGAAAGTGGCTG[T/G]TGCATGTAATCTTTCTGGCACTAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611989 MIM: 615484 | ||||||||||||||||||||
Literature Links: |
MRPS27 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 |
MRPS27 - mitochondrial ribosomal protein S27 | ||||||
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There are no transcripts associated with this gene. |
PTCD2 - pentatricopeptide repeat domain 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001284403.1 | 196 | Missense Mutation | GGT,GTT | G,V 65 | NP_001271332.1 | |
NM_001284404.1 | 196 | UTR 5 | NP_001271333.1 | |||
NM_001284405.1 | 196 | UTR 5 | NP_001271334.1 | |||
NM_024754.4 | 196 | Missense Mutation | GGT,GTT | G,V 65 | NP_079030.3 | |
XM_005248601.2 | 196 | Missense Mutation | GGT,GTT | G,V 65 | XP_005248658.1 | |
XM_005248603.2 | 196 | UTR 5 | XP_005248660.1 | |||
XM_017009866.1 | 196 | UTR 5 | XP_016865355.1 | |||
XM_017009867.1 | 196 | UTR 5 | XP_016865356.1 | |||
XM_017009868.1 | 196 | UTR 5 | XP_016865357.1 |