Product Details

SNP ID
rs147650407
Assay Type
Functionally tested
NCBI dbSNP Submissions
15
Location
Chr.1:43993944 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCAACTGAACGTGTCCAACATTGA[C/T]CAGGTGGCCAGACACCTGAGGTGAG
Phenotype
MIM: 604013 MIM: 601019
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
B4GALT2 PubMed Links

Gene Details

Gene
B4GALT2
Gene Name
beta-1,4-galactosyltransferase 2
There are no transcripts associated with this gene.

Gene
CCDC24
Gene Name
coiled-coil domain containing 24
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152499.2 511 Silent Mutation GAC,GAT D159D NP_689712.1
XM_017000423.1 511 Silent Mutation GAC,GAT D240D XP_016855912.1
XM_017000424.1 511 Silent Mutation GAC,GAT D240D XP_016855913.1
XM_017000425.1 511 Silent Mutation GAC,GAT D240D XP_016855914.1
XM_017000426.1 511 Silent Mutation GAC,GAT D209D XP_016855915.1
XM_017000427.1 511 Silent Mutation GAC,GAT D208D XP_016855916.1
XM_017000428.1 511 Silent Mutation GAC,GAT D207D XP_016855917.1
XM_017000429.1 511 Silent Mutation GAC,GAT D204D XP_016855918.1
XM_017000430.1 511 Silent Mutation GAC,GAT D207D XP_016855919.1
XM_017000431.1 511 Silent Mutation GAC,GAT D171D XP_016855920.1
XM_017000432.1 511 Silent Mutation GAC,GAT D160D XP_016855921.1
XM_017000433.1 511 Silent Mutation GAC,GAT D159D XP_016855922.1
XM_017000434.1 511 Silent Mutation GAC,GAT D158D XP_016855923.1
XM_017000435.1 511 Silent Mutation GAC,GAT D155D XP_016855924.1
XM_017000436.1 511 Silent Mutation GAC,GAT D155D XP_016855925.1
XM_017000437.1 511 Silent Mutation GAC,GAT D141D XP_016855926.1
XM_017000438.1 511 Silent Mutation GAC,GAT D136D XP_016855927.1
XM_017000439.1 511 Silent Mutation GAC,GAT D128D XP_016855928.1
XM_017000440.1 511 Silent Mutation GAC,GAT D123D XP_016855929.1
XM_017000441.1 511 Silent Mutation GAC,GAT D123D XP_016855930.1
XM_017000442.1 511 Silent Mutation GAC,GAT D83D XP_016855931.1
XM_017000443.1 511 UTR 3 XP_016855932.1
XM_017000444.1 511 Intron XP_016855933.1
XM_017000445.1 511 Silent Mutation GAC,GAT D26D XP_016855934.1
XM_017000446.1 511 Silent Mutation GAC,GAT D25D XP_016855935.1
Gene
SLC6A9
Gene Name
solute carrier family 6 member 9
There are no transcripts associated with this gene.

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