Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTCCACGAACGTCACAGCACATAGT[C/T]CTGGATCATCACTGCTGCAGGGTGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611458 | ||||||||||||||||||||
Literature Links: |
GLB1 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 |
GLB1 - galactosidase beta 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000404.3 | 1934 | Missense Mutation | GAA,GGA | E,G 632 | NP_000395.2 | |
NM_001079811.2 | 1934 | Missense Mutation | GAA,GGA | E,G 602 | NP_001073279.1 | |
NM_001135602.2 | 1934 | Missense Mutation | GAA,GGA | E,G 501 | NP_001129074.1 | |
NM_001317040.1 | 1934 | Missense Mutation | GAA,GGA | E,G 680 | NP_001303969.1 |