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TTTATGTGCTTATATTCATAATACT[C/T]ATCTGCCATTGGTATCCTATCTTCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
FAM13C 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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FAM13C - family with sequence similarity 13 member C | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001001971.2 | 1989 | Missense Mutation | AAG,GAG | K,E 460 | NP_001001971.1 | |
NM_001143773.1 | 1989 | Missense Mutation | AAG,GAG | K,E 475 | NP_001137245.1 | |
NM_001166698.1 | 1989 | Missense Mutation | AAG,GAG | K,E 474 | NP_001160170.1 | |
NM_198215.3 | 1989 | Missense Mutation | AAG,GAG | K,E 558 | NP_937858.2 | |
XM_005269618.4 | 1989 | Missense Mutation | AAG,GAG | K,E 557 | XP_005269675.2 | |
XM_005269619.4 | 1989 | Missense Mutation | AAG,GAG | K,E 459 | XP_005269676.2 | |
XM_006717702.3 | 1989 | Missense Mutation | AAG,GAG | K,E 475 | XP_006717765.1 | |
XM_006717703.3 | 1989 | Missense Mutation | AAG,GAG | K,E 475 | XP_006717766.1 | |
XM_011539490.2 | 1989 | Missense Mutation | AAG,GAG | K,E 466 | XP_011537792.1 | |
XM_011539491.2 | 1989 | Missense Mutation | AAG,GAG | K,E 466 | XP_011537793.1 | |
XM_017015885.1 | 1989 | Missense Mutation | AAG,GAG | K,E 475 | XP_016871374.1 | |
XM_017015886.1 | 1989 | Missense Mutation | AAG,GAG | K,E 474 | XP_016871375.1 | |
XM_017015887.1 | 1989 | Missense Mutation | AAG,GAG | K,E 474 | XP_016871376.1 | |
XM_017015888.1 | 1989 | Missense Mutation | AAG,GAG | K,E 474 | XP_016871377.1 | |
XM_017015889.1 | 1989 | Missense Mutation | AAG,GAG | K,E 474 | XP_016871378.1 | |
XM_017015890.1 | 1989 | Missense Mutation | AAG,GAG | K,E 465 | XP_016871379.1 | |
XM_017015891.1 | 1989 | Missense Mutation | AAG,GAG | K,E 377 | XP_016871380.1 | |
XM_017015892.1 | 1989 | Missense Mutation | AAG,GAG | K,E 376 | XP_016871381.1 | |
XM_017015893.1 | 1989 | Missense Mutation | AAG,GAG | K,E 368 | XP_016871382.1 |
PHYHIPL - phytanoyl-CoA 2-hydroxylase interacting protein like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001143774.1 | 1989 | UTR 3 | NP_001137246.1 | |||
NM_032439.3 | 1989 | UTR 3 | NP_115815.2 | |||
XM_011540275.2 | 1989 | Intron | XP_011538577.1 | |||
XM_011540276.2 | 1989 | Intron | XP_011538578.1 | |||
XM_017016782.1 | 1989 | Intron | XP_016872271.1 | |||
XM_017016783.1 | 1989 | Intron | XP_016872272.1 |