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CAAAACCAACCCATCAAACATCAAC[A/C]AGTTTGCAGCAGCTTATTTTCAAGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612135 | ||||||||||||||||||||
Literature Links: |
CABYR 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 |
CABYR - calcium binding tyrosine phosphorylation regulated | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308231.1 | 290 | Intron | NP_001295160.1 | |||
NM_012189.3 | 290 | Missense Mutation | AAG,CAG | K,Q 35 | NP_036321.2 | |
NM_138643.2 | 290 | Intron | NP_619584.1 | |||
NM_138644.2 | 290 | Missense Mutation | AAG,CAG | K,Q 35 | NP_619585.1 | |
NM_153768.2 | 290 | Missense Mutation | AAG,CAG | K,Q 35 | NP_722452.1 | |
NM_153769.2 | 290 | Missense Mutation | AAG,CAG | K,Q 35 | NP_722453.1 | |
NM_153770.2 | 290 | Missense Mutation | AAG,CAG | K,Q 35 | NP_722454.1 | |
XM_005258247.2 | 290 | Missense Mutation | AAG,CAG | K,Q 35 | XP_005258304.1 | |
XM_017025706.1 | 290 | Missense Mutation | AAG,CAG | K,Q 35 | XP_016881195.1 |
TTC39C - tetratricopeptide repeat domain 39C | ||||||
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There are no transcripts associated with this gene. |