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AACTCCCAGCCCCCAGCACACACGT[A/G]GTTCGTGAGGTCCATCAGGAGGTCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610646 | ||||||||||||||||||||
Literature Links: |
C2orf70 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 |
C2orf70 - chromosome 2 open reading frame 70 | ||||||
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There are no transcripts associated with this gene. |
CIB4 - calcium and integrin binding family member 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001029881.2 | 490 | Missense Mutation | CAC,TAC | H,Y 146 | NP_001025052.1 | |
XM_011532514.2 | 490 | Missense Mutation | CAC,TAC | H,Y 162 | XP_011530816.1 | |
XM_011532517.2 | 490 | Missense Mutation | CAC,TAC | H,Y 148 | XP_011530819.1 | |
XM_017003329.1 | 490 | Missense Mutation | CAC,TAC | H,Y 123 | XP_016858818.1 | |
XM_017003330.1 | 490 | Missense Mutation | CAC,TAC | H,Y 101 | XP_016858819.1 | |
XM_017003331.1 | 490 | Intron | XP_016858820.1 |