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CTCCATCCAGCTCTGCAGTGCTTCC[C/T]GACTTTCTGTCTGAAGGGTGTGTGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602288 | ||||||||||||||||||||
Literature Links: |
C2orf81 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 |
C2orf81 - chromosome 2 open reading frame 81 | ||||||
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There are no transcripts associated with this gene. |
RTKN - rhotekin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001015055.1 | 1284 | Missense Mutation | CAG,CGG | Q,R 401 | NP_001015055.1 | |
NM_001015056.1 | 1284 | Missense Mutation | CAG,CGG | Q,R 351 | NP_001015056.1 | |
NM_033046.2 | 1284 | Missense Mutation | CAG,CGG | Q,R 388 | NP_149035.1 | |
XM_005264478.2 | 1284 | Missense Mutation | CAG,CGG | Q,R 401 | XP_005264535.1 | |
XM_005264479.4 | 1284 | Missense Mutation | CAG,CGG | Q,R 401 | XP_005264536.1 | |
XM_017004635.1 | 1284 | Missense Mutation | CAG,CGG | Q,R 388 | XP_016860124.1 | |
XM_017004636.1 | 1284 | Missense Mutation | CAG,CGG | Q,R 388 | XP_016860125.1 | |
XM_017004637.1 | 1284 | Missense Mutation | CAG,CGG | Q,R 351 | XP_016860126.1 | |
XM_017004638.1 | 1284 | Missense Mutation | CAG,CGG | Q,R 271 | XP_016860127.1 | |
XM_017004639.1 | 1284 | Missense Mutation | CAG,CGG | Q,R 351 | XP_016860128.1 | |
XM_017004640.1 | 1284 | Missense Mutation | CAG,CGG | Q,R 271 | XP_016860129.1 |
WDR54 - WD repeat domain 54 | ||||||
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There are no transcripts associated with this gene. |