Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTTACTTTCTGTATCCTCTTTTCTT[G/T]ATTTCTGATCATTGAAGACATTGCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607406 | ||||||||||||||||||||
Literature Links: |
CCDC158 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 |
CCDC158 - coiled-coil domain containing 158 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042784.1 | 3442 | Missense Mutation | AAA,CAA | K,Q 1097 | NP_001036249.1 | |
XM_005262974.4 | 3442 | Missense Mutation | AAA,CAA | K,Q 1097 | XP_005263031.1 | |
XM_006714204.3 | 3442 | Missense Mutation | AAA,CAA | K,Q 1101 | XP_006714267.1 | |
XM_011531908.2 | 3442 | Missense Mutation | AAA,CAA | K,Q 1101 | XP_011530210.1 | |
XM_011531909.2 | 3442 | Missense Mutation | AAA,CAA | K,Q 1101 | XP_011530211.1 | |
XM_011531910.2 | 3442 | Missense Mutation | AAA,CAA | K,Q 1101 | XP_011530212.1 | |
XM_011531911.1 | 3442 | Missense Mutation | AAA,CAA | K,Q 1101 | XP_011530213.1 | |
XM_011531912.2 | 3442 | Missense Mutation | AAA,CAA | K,Q 1101 | XP_011530214.1 | |
XM_011531913.1 | 3442 | Missense Mutation | AAA,CAA | K,Q 1101 | XP_011530215.1 | |
XM_011531914.2 | 3442 | Missense Mutation | AAA,CAA | K,Q 1101 | XP_011530216.1 | |
XM_011531915.2 | 3442 | Missense Mutation | AAA,CAA | K,Q 1050 | XP_011530217.1 | |
XM_011531916.2 | 3442 | Missense Mutation | AAA,CAA | K,Q 1019 | XP_011530218.1 | |
XM_011531917.1 | 3442 | Missense Mutation | AAA,CAA | K,Q 1019 | XP_011530219.1 | |
XM_017008160.1 | 3442 | Missense Mutation | AAA,CAA | K,Q 1101 | XP_016863649.1 | |
XM_017008161.1 | 3442 | Missense Mutation | AAA,CAA | K,Q 801 | XP_016863650.1 |
FAM47E-STBD1 - FAM47E-STBD1 readthrough | ||||||
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There are no transcripts associated with this gene. |
STBD1 - starch binding domain 1 | ||||||
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There are no transcripts associated with this gene. |