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TGCTTTAGATCGTTTGTCTTGTGTA[C/T]CTAACAACCGAGATCTCTTGAATTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611143 MIM: 606769 MIM: 611983 | ||||||||||||||||||||
Literature Links: |
FAM175A 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 |
FAM175A - family with sequence similarity 175 member A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_139076.2 | 1062 | Intron | NP_620775.2 | |||
XM_005263280.4 | 1062 | Missense Mutation | GAT,GGT | D,G 315 | XP_005263337.1 | |
XM_017008694.1 | 1062 | Missense Mutation | GAT,GGT | D,G 255 | XP_016864183.1 |
HELQ - helicase, POLQ-like | ||||||
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There are no transcripts associated with this gene. |
MRPS18C - mitochondrial ribosomal protein S18C | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001297767.1 | 1062 | Intron | NP_001284696.1 | |||
NM_001297769.1 | 1062 | Intron | NP_001284698.1 | |||
NM_001297770.1 | 1062 | Intron | NP_001284699.1 | |||
NM_016067.3 | 1062 | Intron | NP_057151.1 |