Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCTTCAGCTTGTCGCTCTCGAAGT[C/T]CACCACCAGCTTGTGGAGGCCCATG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 190196 | ||||||||||||||||||||
Literature Links: |
TGM2 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 |
TGM2 - transglutaminase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001323316.1 | 2213 | Missense Mutation | AAC,GAC | N,D 667 | NP_001310245.1 | |
NM_001323317.1 | 2213 | Missense Mutation | AAC,GAC | N,D 586 | NP_001310246.1 | |
NM_001323318.1 | 2213 | Missense Mutation | AAC,GAC | N,D 607 | NP_001310247.1 | |
NM_004613.3 | 2213 | Missense Mutation | AAC,GAC | N,D 667 | NP_004604.2 | |
NM_198951.2 | 2213 | Intron | NP_945189.1 | |||
XM_011529028.1 | 2213 | Missense Mutation | AAC,GAC | N,D 667 | XP_011527330.1 |