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CGGAGGACTCTGAACAGGAAGCCGC[A/G]GCCGGACCGACCTGGCCCTGGCTCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608441 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SYNE1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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SYNE1 - spectrin repeat containing nuclear envelope protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_033071.3 | 26672 | Missense Mutation | CGC,TGC | R,C 8690 | NP_149062.1 | |
NM_182961.3 | 26672 | Missense Mutation | CGC,TGC | R,C 8738 | NP_892006.3 | |
XM_006715407.1 | 26672 | Missense Mutation | CGC,TGC | R,C 8787 | XP_006715470.1 | |
XM_006715408.2 | 26672 | Missense Mutation | CGC,TGC | R,C 8783 | XP_006715471.1 | |
XM_006715409.1 | 26672 | Missense Mutation | CGC,TGC | R,C 8780 | XP_006715472.1 | |
XM_006715410.2 | 26672 | Missense Mutation | CGC,TGC | R,C 8773 | XP_006715473.1 | |
XM_006715411.1 | 26672 | Missense Mutation | CGC,TGC | R,C 8770 | XP_006715474.1 | |
XM_006715412.2 | 26672 | Missense Mutation | CGC,TGC | R,C 8768 | XP_006715475.1 | |
XM_006715413.2 | 26672 | Missense Mutation | CGC,TGC | R,C 8764 | XP_006715476.1 | |
XM_006715414.1 | 26672 | Missense Mutation | CGC,TGC | R,C 8763 | XP_006715477.1 | |
XM_006715415.2 | 26672 | Missense Mutation | CGC,TGC | R,C 8750 | XP_006715478.1 | |
XM_006715416.2 | 26672 | Missense Mutation | CGC,TGC | R,C 8745 | XP_006715479.1 | |
XM_006715417.2 | 26672 | Missense Mutation | CGC,TGC | R,C 8740 | XP_006715480.1 | |
XM_006715420.2 | 26672 | Missense Mutation | CGC,TGC | R,C 8736 | XP_006715483.1 | |
XM_006715421.2 | 26672 | Missense Mutation | CGC,TGC | R,C 8735 | XP_006715484.1 | |
XM_006715422.1 | 26672 | Missense Mutation | CGC,TGC | R,C 8734 | XP_006715485.1 | |
XM_006715423.2 | 26672 | UTR 3 | XP_006715486.1 | |||
XM_006715424.2 | 26672 | UTR 3 | XP_006715487.1 | |||
XM_006715425.2 | 26672 | UTR 3 | XP_006715488.1 | |||
XM_011535641.2 | 26672 | Missense Mutation | CGC,TGC | R,C 8786 | XP_011533943.1 | |
XM_011535642.2 | 26672 | Missense Mutation | CGC,TGC | R,C 8782 | XP_011533944.1 | |
XM_011535643.1 | 26672 | Missense Mutation | CGC,TGC | R,C 8732 | XP_011533945.1 | |
XM_011535644.1 | 26672 | Missense Mutation | CGC,TGC | R,C 8212 | XP_011533946.1 | |
XM_011535645.2 | 26672 | Missense Mutation | CGC,TGC | R,C 8043 | XP_011533947.1 | |
XM_017010608.1 | 26672 | Missense Mutation | CGC,TGC | R,C 8787 | XP_016866097.1 | |
XM_017010609.1 | 26672 | Missense Mutation | CGC,TGC | R,C 8787 | XP_016866098.1 | |
XM_017010610.1 | 26672 | Missense Mutation | CGC,TGC | R,C 8780 | XP_016866099.1 | |
XM_017010611.1 | 26672 | Missense Mutation | CGC,TGC | R,C 8778 | XP_016866100.1 | |
XM_017010612.1 | 26672 | Missense Mutation | CGC,TGC | R,C 8761 | XP_016866101.1 | |
XM_017010613.1 | 26672 | Missense Mutation | CGC,TGC | R,C 8749 | XP_016866102.1 | |
XM_017010614.1 | 26672 | Missense Mutation | CGC,TGC | R,C 8735 | XP_016866103.1 | |
XM_017010615.1 | 26672 | Missense Mutation | CGC,TGC | R,C 8698 | XP_016866104.1 | |
XM_017010616.1 | 26672 | UTR 3 | XP_016866105.1 | |||
XM_017010617.1 | 26672 | UTR 3 | XP_016866106.1 | |||
XM_017010618.1 | 26672 | UTR 3 | XP_016866107.1 | |||
XM_017010619.1 | 26672 | Missense Mutation | CGC,TGC | R,C 8212 | XP_016866108.1 |