Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ATCTTGTCCACCAGGCCCTTGTTGA[C/T]GGCGTCGGTGACAGGGAAGCGCTCA
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 |
---|---|---|
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 |
PLEC - plectin | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000445.4 | 12952 | Missense Mutation | ATC,GTC | I,V 4363 | NP_000436.2 | |
NM_201378.3 | 12952 | Missense Mutation | ATC,GTC | I,V 4322 | NP_958780.1 | |
NM_201379.2 | 12952 | Missense Mutation | ATC,GTC | I,V 4314 | NP_958781.1 | |
NM_201380.3 | 12952 | Missense Mutation | ATC,GTC | I,V 4473 | NP_958782.1 | |
NM_201381.2 | 12952 | Missense Mutation | ATC,GTC | I,V 4304 | NP_958783.1 | |
NM_201382.3 | 12952 | Missense Mutation | ATC,GTC | I,V 4336 | NP_958784.1 | |
NM_201383.2 | 12952 | Missense Mutation | ATC,GTC | I,V 4340 | NP_958785.1 | |
NM_201384.2 | 12952 | Missense Mutation | ATC,GTC | I,V 4336 | NP_958786.1 | |
XM_005250976.3 | 12952 | Missense Mutation | ATC,GTC | I,V 4478 | XP_005251033.1 | |
XM_005250978.3 | 12952 | Missense Mutation | ATC,GTC | I,V 4345 | XP_005251035.1 | |
XM_005250979.4 | 12952 | Missense Mutation | ATC,GTC | I,V 4341 | XP_005251036.1 | |
XM_005250980.4 | 12952 | Missense Mutation | ATC,GTC | I,V 4341 | XP_005251037.1 | |
XM_005250981.3 | 12952 | Missense Mutation | ATC,GTC | I,V 4327 | XP_005251038.1 | |
XM_005250982.3 | 12952 | Missense Mutation | ATC,GTC | I,V 4319 | XP_005251039.1 | |
XM_005250983.2 | 12952 | Missense Mutation | ATC,GTC | I,V 4313 | XP_005251040.1 | |
XM_005250984.4 | 12952 | Missense Mutation | ATC,GTC | I,V 4309 | XP_005251041.1 | |
XM_006716588.3 | 12952 | Missense Mutation | ATC,GTC | I,V 4368 | XP_006716651.1 | |
XM_006716589.2 | 12952 | Missense Mutation | ATC,GTC | I,V 4318 | XP_006716652.1 | |
XM_006716590.3 | 12952 | Missense Mutation | ATC,GTC | I,V 4318 | XP_006716653.1 | |
XM_011517130.2 | 12952 | Missense Mutation | ATC,GTC | I,V 4341 | XP_011515432.1 | |
XM_011517131.2 | 12952 | Missense Mutation | ATC,GTC | I,V 4313 | XP_011515433.1 | |
XM_011517132.2 | 12952 | Missense Mutation | ATC,GTC | I,V 3218 | XP_011515434.1 |