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GGAGCCGACCGGAAGCCAGTTGCTA[C/T]GCAGCAAAGTGGGTGTTGTGGGGGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609967 MIM: 604951 | ||||||||||||||||||||
Literature Links: |
FAM129C 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 |
FAM129C - family with sequence similarity 129 member C | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001098524.1 | 256 | Missense Mutation | CGC,TGC | R,C 91 | NP_001091994.1 | |
NM_001321826.1 | 256 | Missense Mutation | CGC,TGC | R,C 60 | NP_001308755.1 | |
NM_001321827.1 | 256 | Missense Mutation | CGC,TGC | R,C 60 | NP_001308756.1 | |
NM_001321828.1 | 256 | Intron | NP_001308757.1 | |||
NM_173544.4 | 256 | Missense Mutation | CGC,TGC | R,C 91 | NP_775815.2 | |
XM_005259813.3 | 256 | Missense Mutation | CGC,TGC | R,C 60 | XP_005259870.1 | |
XM_005259814.3 | 256 | Missense Mutation | CGC,TGC | R,C 60 | XP_005259871.1 | |
XM_011527781.2 | 256 | Missense Mutation | CGC,TGC | R,C 60 | XP_011526083.1 | |
XM_011527786.2 | 256 | Missense Mutation | CGC,TGC | R,C 60 | XP_011526088.1 | |
XM_011527787.2 | 256 | Missense Mutation | CGC,TGC | R,C 60 | XP_011526089.1 | |
XM_011527789.1 | 256 | Missense Mutation | CGC,TGC | R,C 60 | XP_011526091.1 | |
XM_017026453.1 | 256 | Missense Mutation | CGC,TGC | R,C 60 | XP_016881942.1 | |
XM_017026454.1 | 256 | Missense Mutation | CGC,TGC | R,C 60 | XP_016881943.1 | |
XM_017026455.1 | 256 | Intron | XP_016881944.1 | |||
XM_017026456.1 | 256 | Intron | XP_016881945.1 | |||
XM_017026457.1 | 256 | Intron | XP_016881946.1 |
PGLS - 6-phosphogluconolactonase | ||||||
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There are no transcripts associated with this gene. |