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CTATCTCTTTGAGGACTTGTCCAAT[C/T]TGCTGGCAGGTGATTTCCTCTGGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 113810 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DST PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
|
DST - dystonin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001144769.2 | 17216 | Missense Mutation | AAA,AGA | K,R 5668 | NP_001138241.1 | |
NM_001144770.1 | 17216 | Missense Mutation | AAA,AGA | K,R 5530 | NP_001138242.1 | |
NM_001723.5 | 17216 | Intron | NP_001714.1 | |||
NM_015548.4 | 17216 | Missense Mutation | AAA,AGA | K,R 5164 | NP_056363.2 | |
NM_183380.3 | 17216 | Missense Mutation | AAA,AGA | K,R 5490 | NP_899236.1 | |
XM_005249310.3 | 17216 | Missense Mutation | AAA,AGA | K,R 7811 | XP_005249367.1 | |
XM_005249315.3 | 17216 | Missense Mutation | AAA,AGA | K,R 7778 | XP_005249372.1 | |
XM_005249316.2 | 17216 | Missense Mutation | AAA,AGA | K,R 7716 | XP_005249373.1 | |
XM_005249318.2 | 17216 | Missense Mutation | AAA,AGA | K,R 7673 | XP_005249375.1 | |
XM_005249319.2 | 17216 | Missense Mutation | AAA,AGA | K,R 7640 | XP_005249376.1 | |
XM_005249320.4 | 17216 | Missense Mutation | AAA,AGA | K,R 7633 | XP_005249377.1 | |
XM_005249322.4 | 17216 | Missense Mutation | AAA,AGA | K,R 7626 | XP_005249379.1 | |
XM_005249323.3 | 17216 | Missense Mutation | AAA,AGA | K,R 7600 | XP_005249380.1 | |
XM_005249324.2 | 17216 | Missense Mutation | AAA,AGA | K,R 7274 | XP_005249381.1 | |
XM_011514824.2 | 17216 | Missense Mutation | AAA,AGA | K,R 7787 | XP_011513126.1 | |
XM_011514825.2 | 17216 | Missense Mutation | AAA,AGA | K,R 5677 | XP_011513127.1 | |
XM_011514826.2 | 17216 | Missense Mutation | AAA,AGA | K,R 7454 | XP_011513128.1 | |
XM_017011205.1 | 17216 | Missense Mutation | AAA,AGA | K,R 7820 | XP_016866694.1 | |
XM_017011206.1 | 17216 | Missense Mutation | AAA,AGA | K,R 7814 | XP_016866695.1 | |
XM_017011207.1 | 17216 | Missense Mutation | AAA,AGA | K,R 7799 | XP_016866696.1 | |
XM_017011208.1 | 17216 | Missense Mutation | AAA,AGA | K,R 7796 | XP_016866697.1 | |
XM_017011209.1 | 17216 | Missense Mutation | AAA,AGA | K,R 7790 | XP_016866698.1 | |
XM_017011210.1 | 17216 | Missense Mutation | AAA,AGA | K,R 7783 | XP_016866699.1 | |
XM_017011211.1 | 17216 | Missense Mutation | AAA,AGA | K,R 7759 | XP_016866700.1 | |
XM_017011212.1 | 17216 | Missense Mutation | AAA,AGA | K,R 7742 | XP_016866701.1 | |
XM_017011213.1 | 17216 | Missense Mutation | AAA,AGA | K,R 7711 | XP_016866702.1 | |
XM_017011214.1 | 17216 | Missense Mutation | AAA,AGA | K,R 7687 | XP_016866703.1 | |
XM_017011215.1 | 17216 | Missense Mutation | AAA,AGA | K,R 7674 | XP_016866704.1 | |
XM_017011216.1 | 17216 | Missense Mutation | AAA,AGA | K,R 7650 | XP_016866705.1 | |
XM_017011217.1 | 17216 | Missense Mutation | AAA,AGA | K,R 7612 | XP_016866706.1 | |
XM_017011218.1 | 17216 | Missense Mutation | AAA,AGA | K,R 6009 | XP_016866707.1 | |
XM_017011219.1 | 17216 | Missense Mutation | AAA,AGA | K,R 5734 | XP_016866708.1 | |
XM_017011220.1 | 17216 | Missense Mutation | AAA,AGA | K,R 5692 | XP_016866709.1 | |
XM_017011221.1 | 17216 | Missense Mutation | AAA,AGA | K,R 5656 | XP_016866710.1 | |
XM_017011222.1 | 17216 | Missense Mutation | AAA,AGA | K,R 5630 | XP_016866711.1 | |
XM_017011223.1 | 17216 | Missense Mutation | AAA,AGA | K,R 5625 | XP_016866712.1 | |
XM_017011224.1 | 17216 | Missense Mutation | AAA,AGA | K,R 5368 | XP_016866713.1 | |
XM_017011225.1 | 17216 | Intron | XP_016866714.1 |