Product Details

SNP ID

rs200340553

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:43997681 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATGGTGGGGGCGTAGCGCCCTGTC[C/T]GGTGCTCCAGGAGGGCAGGGCCCCA

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

There are no transcripts associated with this gene.

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	2192	Missense Mutation	CAG,CGG	Q589R	NP_001020016.1
NM_001261380.1	2192	Missense Mutation	CAG,CGG	Q593R	NP_001248309.1
NM_006934.3	2192	Missense Mutation	CAG,CGG	Q608R	NP_008865.2
NM_201649.3	2192	Missense Mutation	CAG,CGG	Q662R	NP_964012.2
XM_011542017.2	2192	Intron			XP_011540319.1
XM_017002151.1	2192	Missense Mutation	CAG,CGG	Q589R	XP_016857640.1
XM_017002152.1	2192	Missense Mutation	CAG,CGG	Q562R	XP_016857641.1
XM_017002153.1	2192	Missense Mutation	CAG,CGG	Q551R	XP_016857642.1

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