Product Details

SNP ID
rs2248253
Assay Type
Functionally tested
NCBI dbSNP Submissions
39
Location
Chr.1:43997498 on Build GRCh38
Set Membership
HapMap JSNP
Context Sequence [VIC/FAM]
TGGCCTCTGCCTCACCAGTCTCTGC[A/G]GTGGGAGCACGGGGTGGGGGTGGGG
Phenotype
MIM: 604013 MIM: 601019
Polymorphism
A/G, 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 2375 Intron NP_689712.1
XM_017000423.1 2375 Intron XP_016855912.1
XM_017000424.1 2375 Intron XP_016855913.1
XM_017000425.1 2375 Intron XP_016855914.1
XM_017000426.1 2375 Intron XP_016855915.1
XM_017000427.1 2375 Intron XP_016855916.1
XM_017000428.1 2375 Intron XP_016855917.1
XM_017000429.1 2375 Intron XP_016855918.1
XM_017000430.1 2375 Intron XP_016855919.1
XM_017000431.1 2375 Intron XP_016855920.1
XM_017000432.1 2375 Intron XP_016855921.1
XM_017000433.1 2375 Intron XP_016855922.1
XM_017000434.1 2375 Intron XP_016855923.1
XM_017000435.1 2375 Intron XP_016855924.1
XM_017000436.1 2375 Intron XP_016855925.1
XM_017000437.1 2375 Intron XP_016855926.1
XM_017000438.1 2375 Intron XP_016855927.1
XM_017000439.1 2375 Intron XP_016855928.1
XM_017000440.1 2375 Intron XP_016855929.1
XM_017000441.1 2375 Intron XP_016855930.1
XM_017000442.1 2375 Intron XP_016855931.1
XM_017000443.1 2375 Intron XP_016855932.1
XM_017000444.1 2375 Intron XP_016855933.1
XM_017000445.1 2375 Intron XP_016855934.1
XM_017000446.1 2375 Intron XP_016855935.1
Gene
SLC6A9
Gene Name
solute carrier family 6 member 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001024845.2 2375 UTR 3 NP_001020016.1
NM_001261380.1 2375 UTR 3 NP_001248309.1
NM_006934.3 2375 UTR 3 NP_008865.2
NM_201649.3 2375 UTR 3 NP_964012.2
XM_011542017.2 2375 Intron XP_011540319.1
XM_017002151.1 2375 UTR 3 XP_016857640.1
XM_017002152.1 2375 UTR 3 XP_016857641.1
XM_017002153.1 2375 UTR 3 XP_016857642.1

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