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ACCGAAGCCACCGCCCGTCATGCGG[C/G]TGCCATAAACCCCAGGCACAGCAAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 604313 MIM: 147557 | ||||||||||||||||||||
Literature Links: |
GALK1 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 |
GALK1 - galactokinase 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000154.1 | 1085 | Missense Mutation | ACC,AGC | T,S 341 | NP_000145.1 |
ITGB4 - integrin subunit beta 4 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000213.4 | 1085 | Intron | NP_000204.3 | |||
NM_001005619.1 | 1085 | Intron | NP_001005619.1 | |||
NM_001005731.2 | 1085 | Intron | NP_001005731.1 | |||
NM_001321123.1 | 1085 | Intron | NP_001308052.1 | |||
XM_005257309.2 | 1085 | Intron | XP_005257366.1 | |||
XM_005257311.4 | 1085 | Intron | XP_005257368.1 | |||
XM_006721866.3 | 1085 | Intron | XP_006721929.1 | |||
XM_006721867.3 | 1085 | Intron | XP_006721930.1 | |||
XM_006721868.3 | 1085 | Intron | XP_006721931.1 | |||
XM_006721870.3 | 1085 | Intron | XP_006721933.1 | |||
XM_011524751.2 | 1085 | Intron | XP_011523053.1 | |||
XM_011524752.2 | 1085 | Intron | XP_011523054.1 |