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CCTGGGCCCCACAACTTCTACTCTC[A/G]CCCACACTTTGTCAACACTGTGGAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613169 | ||||||||||||||||||||
Literature Links: |
C3orf84 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 |
C3orf84 - chromosome 3 open reading frame 84 | ||||||
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There are no transcripts associated with this gene. |
CCDC71 - coiled-coil domain containing 71 | ||||||
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There are no transcripts associated with this gene. |
KLHDC8B - kelch domain containing 8B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_173546.2 | 1452 | Missense Mutation | CAC,CGC | H,R 241 | NP_775817.1 | |
XM_005264938.2 | 1452 | Missense Mutation | CAC,CGC | H,R 248 | XP_005264995.1 | |
XM_005264940.4 | 1452 | Missense Mutation | CAC,CGC | H,R 114 | XP_005264997.1 | |
XM_006713015.2 | 1452 | Missense Mutation | CAC,CGC | H,R 258 | XP_006713078.1 | |
XM_006713016.2 | 1452 | Missense Mutation | CAC,CGC | H,R 251 | XP_006713079.1 |