Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ATACCTTGGGCTACGTCCTTACACA[C/T]GAGGGGCCCCCCGGAGTCCCCCTGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 116831 | ||||||||||||||||||||
Literature Links: |
GZMH 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 |
GZMH - granzyme H | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001270780.1 | 468 | Missense Mutation | ATG,GTG | M,V 143 | NP_001257709.1 | |
NM_001270781.1 | 468 | Missense Mutation | ATG,GTG | M,V 121 | NP_001257710.1 | |
NM_033423.4 | 468 | Missense Mutation | ATG,GTG | M,V 207 | NP_219491.1 | |
XM_011536683.2 | 468 | Missense Mutation | ATG,GTG | M,V 173 | XP_011534985.1 |