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TTTTCCTTTTTTCTGCCTTTTCTGC[A/C]TTTTCCCTTATCTCCTTTTCAAGCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602031 | ||||||||||||||||||||
Literature Links: |
CCDC112 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 |
CCDC112 - coiled-coil domain containing 112 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001040440.2 | 1536 | Missense Mutation | AAG,AAT | K,N 424 | NP_001035530.1 | |
NM_152549.2 | 1536 | Missense Mutation | AAG,AAT | K,N 341 | NP_689762.2 | |
XM_005271908.1 | 1536 | Missense Mutation | AAG,AAT | K,N 424 | XP_005271965.1 |
PGGT1B - protein geranylgeranyltransferase type I subunit beta | ||||||
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There are no transcripts associated with this gene. |