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GCTGACTACGAGGTGCACCCCAACC[A/G]ACGCCCCAAGATCCTGGCCCAGACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
13 submissions
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Phenotype: |
MIM: 609831 MIM: 176763 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CCDC163P 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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CCDC163P - coiled-coil domain containing 163, pseudogene | ||||||
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There are no transcripts associated with this gene. |
MMACHC - methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015506.2 | 390 | Missense Mutation | CAA,CGA | Q,R 111 | NP_056321.2 | |
XM_005270724.4 | 390 | Missense Mutation | CAA,CGA | Q,R 46 | XP_005270781.1 | |
XM_011541204.2 | 390 | Missense Mutation | CAA,CGA | Q,R 54 | XP_011539506.1 |
PRDX1 - peroxiredoxin 1 | ||||||
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There are no transcripts associated with this gene. |