Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TAAGAGATACTCACATCGAAAGCGA[C/G]CCGGGGCTTCCAGTTCAGCTTCTGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602884 | ||||||||||||||||||||
Literature Links: |
GMDS 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 |
GMDS - GDP-mannose 4,6-dehydratase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001253846.1 | 970 | Missense Mutation | CTC,GTC | L,V 319 | NP_001240775.1 | |
NM_001500.3 | 970 | Missense Mutation | CTC,GTC | L,V 349 | NP_001491.1 | |
XM_006715066.2 | 970 | Intron | XP_006715129.1 | |||
XM_011514500.1 | 970 | Missense Mutation | CTC,GTC | L,V 319 | XP_011512802.1 | |
XM_011514502.2 | 970 | Intron | XP_011512804.1 | |||
XM_011514503.2 | 970 | Intron | XP_011512805.1 | |||
XM_011514505.1 | 970 | Intron | XP_011512807.1 | |||
XM_011514506.1 | 970 | Intron | XP_011512808.1 | |||
XM_011514507.1 | 970 | Intron | XP_011512809.1 | |||
XM_017010752.1 | 970 | Missense Mutation | CTC,GTC | L,V 262 | XP_016866241.1 |