Product Details

SNP ID
rs201972845
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:75758459 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAGAGGGCCTCACCTGAGTGAGC[A/G]GTGGCTCTCCACCATGAGGCGGCCA
Phenotype
MIM: 604313 MIM: 147557
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GALK1 PubMed Links

Gene Details

Gene
GALK1
Gene Name
galactokinase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000154.1 997 Missense Mutation CGC,TGC R312C NP_000145.1
Gene
ITGB4
Gene Name
integrin subunit beta 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000213.4 997 Intron NP_000204.3
NM_001005619.1 997 Intron NP_001005619.1
NM_001005731.2 997 Intron NP_001005731.1
NM_001321123.1 997 Intron NP_001308052.1
XM_005257309.2 997 Intron XP_005257366.1
XM_005257311.4 997 Intron XP_005257368.1
XM_006721866.3 997 Intron XP_006721929.1
XM_006721867.3 997 Intron XP_006721930.1
XM_006721868.3 997 Intron XP_006721931.1
XM_006721870.3 997 Intron XP_006721933.1
XM_011524751.2 997 Intron XP_011523053.1
XM_011524752.2 997 Intron XP_011523054.1

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