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CCGGCCCTCCAGGCTCACCTGTCCT[A/T]TTCCTCAGGTGTGTTCTTGGGGAGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 120240 MIM: 606806 | ||||||||||||||||||||
Literature Links: |
COL6A2 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 |
COL6A2 - collagen type VI alpha 2 | ||||||
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There are no transcripts associated with this gene. |
FTCD - formimidoyltransferase cyclodeaminase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320412.1 | 2384 | Nonsense Mutation | AAG,TAG | K,* 433 | NP_001307341.1 | |
NM_006657.2 | 2384 | Nonsense Mutation | AAG,TAG | K,* 433 | NP_006648.1 | |
NM_206965.1 | 2384 | Nonsense Mutation | AAG,TAG | K,* 433 | NP_996848.1 | |
XM_006723961.3 | 2384 | Nonsense Mutation | AAG,TAG | K,* 516 | XP_006724024.2 | |
XM_006723962.3 | 2384 | Nonsense Mutation | AAG,TAG | K,* 516 | XP_006724025.2 | |
XM_011529434.2 | 2384 | Nonsense Mutation | AAG,TAG | K,* 516 | XP_011527736.1 | |
XM_011529435.2 | 2384 | Nonsense Mutation | AAG,TAG | K,* 473 | XP_011527737.1 | |
XM_011529436.2 | 2384 | Nonsense Mutation | AAG,TAG | K,* 516 | XP_011527738.1 | |
XM_011529437.2 | 2384 | Nonsense Mutation | AAG,TAG | K,* 516 | XP_011527739.1 | |
XM_011529439.2 | 2384 | Nonsense Mutation | AAG,TAG | K,* 345 | XP_011527741.1 | |
XM_011529440.2 | 2384 | Intron | XP_011527742.1 |