Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGCACGGGAAAGTCTGAGCACTCTG[A/C]TGCTTTACAAGGAGTTGACATTTTG
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 - 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 |
DST - dystonin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001144769.2 | 16819 | Missense Mutation | GCA,TCA | A,S 5536 | NP_001138241.1 | |
NM_001144770.1 | 16819 | Missense Mutation | GCA,TCA | A,S 5398 | NP_001138242.1 | |
NM_001723.5 | 16819 | Intron | NP_001714.1 | |||
NM_015548.4 | 16819 | Missense Mutation | GCA,TCA | A,S 5032 | NP_056363.2 | |
NM_183380.3 | 16819 | Missense Mutation | GCA,TCA | A,S 5358 | NP_899236.1 | |
XM_005249310.3 | 16819 | Missense Mutation | GCA,TCA | A,S 7679 | XP_005249367.1 | |
XM_005249315.3 | 16819 | Missense Mutation | GCA,TCA | A,S 7646 | XP_005249372.1 | |
XM_005249316.2 | 16819 | Missense Mutation | GCA,TCA | A,S 7584 | XP_005249373.1 | |
XM_005249318.2 | 16819 | Missense Mutation | GCA,TCA | A,S 7541 | XP_005249375.1 | |
XM_005249319.2 | 16819 | Missense Mutation | GCA,TCA | A,S 7508 | XP_005249376.1 | |
XM_005249320.4 | 16819 | Missense Mutation | GCA,TCA | A,S 7501 | XP_005249377.1 | |
XM_005249322.4 | 16819 | Missense Mutation | GCA,TCA | A,S 7494 | XP_005249379.1 | |
XM_005249323.3 | 16819 | Missense Mutation | GCA,TCA | A,S 7468 | XP_005249380.1 | |
XM_005249324.2 | 16819 | Missense Mutation | GCA,TCA | A,S 7142 | XP_005249381.1 | |
XM_011514824.2 | 16819 | Missense Mutation | GCA,TCA | A,S 7655 | XP_011513126.1 | |
XM_011514825.2 | 16819 | Missense Mutation | GCA,TCA | A,S 5545 | XP_011513127.1 | |
XM_011514826.2 | 16819 | Intron | XP_011513128.1 | |||
XM_017011205.1 | 16819 | Missense Mutation | GCA,TCA | A,S 7688 | XP_016866694.1 | |
XM_017011206.1 | 16819 | Missense Mutation | GCA,TCA | A,S 7682 | XP_016866695.1 | |
XM_017011207.1 | 16819 | Missense Mutation | GCA,TCA | A,S 7667 | XP_016866696.1 | |
XM_017011208.1 | 16819 | Missense Mutation | GCA,TCA | A,S 7664 | XP_016866697.1 | |
XM_017011209.1 | 16819 | Missense Mutation | GCA,TCA | A,S 7658 | XP_016866698.1 | |
XM_017011210.1 | 16819 | Intron | XP_016866699.1 | |||
XM_017011211.1 | 16819 | Intron | XP_016866700.1 | |||
XM_017011212.1 | 16819 | Missense Mutation | GCA,TCA | A,S 7610 | XP_016866701.1 | |
XM_017011213.1 | 16819 | Missense Mutation | GCA,TCA | A,S 7579 | XP_016866702.1 | |
XM_017011214.1 | 16819 | Missense Mutation | GCA,TCA | A,S 7555 | XP_016866703.1 | |
XM_017011215.1 | 16819 | Intron | XP_016866704.1 | |||
XM_017011216.1 | 16819 | Intron | XP_016866705.1 | |||
XM_017011217.1 | 16819 | Missense Mutation | GCA,TCA | A,S 7480 | XP_016866706.1 | |
XM_017011218.1 | 16819 | Missense Mutation | GCA,TCA | A,S 5877 | XP_016866707.1 | |
XM_017011219.1 | 16819 | Missense Mutation | GCA,TCA | A,S 5602 | XP_016866708.1 | |
XM_017011220.1 | 16819 | Missense Mutation | GCA,TCA | A,S 5560 | XP_016866709.1 | |
XM_017011221.1 | 16819 | Missense Mutation | GCA,TCA | A,S 5524 | XP_016866710.1 | |
XM_017011222.1 | 16819 | Missense Mutation | GCA,TCA | A,S 5498 | XP_016866711.1 | |
XM_017011223.1 | 16819 | Missense Mutation | GCA,TCA | A,S 5493 | XP_016866712.1 | |
XM_017011224.1 | 16819 | Intron | XP_016866713.1 | |||
XM_017011225.1 | 16819 | Intron | XP_016866714.1 |