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GATGGTGACGGGCCTGTGCGGGAGG[C/T]GACAGTGAAACCCTTTGCCATCGAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 104613 MIM: 607940 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CCT6A 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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CCT6A - chaperonin containing TCP1 subunit 6A | ||||||
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There are no transcripts associated with this gene. |
SNORA15 - small nucleolar RNA, H/ACA box 15 | ||||||
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There are no transcripts associated with this gene. |
SUMF2 - sulfatase modifying factor 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042469.1 | 258 | Missense Mutation | GCG,GTG | A,V 76 | NP_001035934.2 | |
NM_001042470.1 | 258 | Missense Mutation | GCG,GTG | A,V 76 | NP_001035935.2 | |
NM_001130069.2 | 258 | Missense Mutation | GCG,GTG | A,V 76 | NP_001123541.1 | |
NM_001146333.1 | 258 | Intron | NP_001139805.1 | |||
NM_015411.2 | 258 | Missense Mutation | GCG,GTG | A,V 76 | NP_056226.2 | |
XM_011515254.2 | 258 | Missense Mutation | GCG,GTG | A,V 76 | XP_011513556.1 | |
XM_017011939.1 | 258 | Missense Mutation | GCG,GTG | A,V 76 | XP_016867428.1 | |
XM_017011940.1 | 258 | Missense Mutation | GCG,GTG | A,V 76 | XP_016867429.1 |