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CCGCAAGTCCTTCCTGTATCCTCCC[C/G]AAGAGTCTGAGCCCTGCCCTCAAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607164 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CCDC142 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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CCDC142 - coiled-coil domain containing 142 | ||||||
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There are no transcripts associated with this gene. |
LBX2 - ladybird homeobox 2 | ||||||
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There are no transcripts associated with this gene. |
TTC31 - tetratricopeptide repeat domain 31 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022492.4 | 313 | Missense Mutation | CAA,GAA | Q,E 118 | NP_071937.4 | |
XM_005264492.1 | 313 | Missense Mutation | CAA,GAA | Q,E 118 | XP_005264549.1 | |
XM_011533035.1 | 313 | Missense Mutation | CAA,GAA | Q,E 118 | XP_011531337.1 | |
XM_011533036.1 | 313 | Missense Mutation | CAA,GAA | Q,E 118 | XP_011531338.1 | |
XM_011533037.1 | 313 | Missense Mutation | CAA,GAA | Q,E 118 | XP_011531339.1 | |
XM_011533040.1 | 313 | UTR 5 | XP_011531342.1 | |||
XM_017004706.1 | 313 | Missense Mutation | CAA,GAA | Q,E 118 | XP_016860195.1 | |
XM_017004707.1 | 313 | Missense Mutation | CAA,GAA | Q,E 118 | XP_016860196.1 | |
XM_017004708.1 | 313 | UTR 5 | XP_016860197.1 | |||
XM_017004709.1 | 313 | UTR 5 | XP_016860198.1 |