Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTTCTGTGCGGTGCGGGCGTCCACC[A/G]TGCCGCGCTGCAGGGCCTCGTCCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601282 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PLEC 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
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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PLEC - plectin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000445.4 | 13193 | Missense Mutation | ACG,ATG | T,M 4443 | NP_000436.2 | |
NM_201378.3 | 13193 | Missense Mutation | ACG,ATG | T,M 4402 | NP_958780.1 | |
NM_201379.2 | 13193 | Missense Mutation | ACG,ATG | T,M 4394 | NP_958781.1 | |
NM_201380.3 | 13193 | Missense Mutation | ACG,ATG | T,M 4553 | NP_958782.1 | |
NM_201381.2 | 13193 | Missense Mutation | ACG,ATG | T,M 4384 | NP_958783.1 | |
NM_201382.3 | 13193 | Missense Mutation | ACG,ATG | T,M 4416 | NP_958784.1 | |
NM_201383.2 | 13193 | Missense Mutation | ACG,ATG | T,M 4420 | NP_958785.1 | |
NM_201384.2 | 13193 | Missense Mutation | ACG,ATG | T,M 4416 | NP_958786.1 | |
XM_005250976.3 | 13193 | Missense Mutation | ACG,ATG | T,M 4558 | XP_005251033.1 | |
XM_005250978.3 | 13193 | Missense Mutation | ACG,ATG | T,M 4425 | XP_005251035.1 | |
XM_005250979.4 | 13193 | Missense Mutation | ACG,ATG | T,M 4421 | XP_005251036.1 | |
XM_005250980.4 | 13193 | Missense Mutation | ACG,ATG | T,M 4421 | XP_005251037.1 | |
XM_005250981.3 | 13193 | Missense Mutation | ACG,ATG | T,M 4407 | XP_005251038.1 | |
XM_005250982.3 | 13193 | Missense Mutation | ACG,ATG | T,M 4399 | XP_005251039.1 | |
XM_005250983.2 | 13193 | Missense Mutation | ACG,ATG | T,M 4393 | XP_005251040.1 | |
XM_005250984.4 | 13193 | Missense Mutation | ACG,ATG | T,M 4389 | XP_005251041.1 | |
XM_006716588.3 | 13193 | Missense Mutation | ACG,ATG | T,M 4448 | XP_006716651.1 | |
XM_006716589.2 | 13193 | Missense Mutation | ACG,ATG | T,M 4398 | XP_006716652.1 | |
XM_006716590.3 | 13193 | Missense Mutation | ACG,ATG | T,M 4398 | XP_006716653.1 | |
XM_011517130.2 | 13193 | Missense Mutation | ACG,ATG | T,M 4421 | XP_011515432.1 | |
XM_011517131.2 | 13193 | Missense Mutation | ACG,ATG | T,M 4393 | XP_011515433.1 | |
XM_011517132.2 | 13193 | Missense Mutation | ACG,ATG | T,M 3298 | XP_011515434.1 |