Product Details

SNP ID

rs112144096

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:43992296 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCATCTCTGACCCCTCTTCTCTT[A/C]TGGCACCACCGCCTCTCCTAAAGGA

Phenotype

MIM: 604013 MIM: 601019

Polymorphism

A/C, Transversion 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	382	Missense Mutation	ATG,CTG	M71L	NP_689712.1
XM_017000423.1	382	Missense Mutation	ATG,CTG	M107L	XP_016855912.1
XM_017000424.1	382	Missense Mutation	ATG,CTG	M107L	XP_016855913.1
XM_017000425.1	382	Missense Mutation	ATG,CTG	M107L	XP_016855914.1
XM_017000426.1	382	Missense Mutation	ATG,CTG	M76L	XP_016855915.1
XM_017000427.1	382	Missense Mutation	ATG,CTG	M107L	XP_016855916.1
XM_017000428.1	382	Missense Mutation	ATG,CTG	M107L	XP_016855917.1
XM_017000429.1	382	Missense Mutation	ATG,CTG	M71L	XP_016855918.1
XM_017000430.1	382	Missense Mutation	ATG,CTG	M107L	XP_016855919.1
XM_017000431.1	382	Missense Mutation	ATG,CTG	M71L	XP_016855920.1
XM_017000432.1	382	Missense Mutation	ATG,CTG	M27L	XP_016855921.1
XM_017000433.1	382	Missense Mutation	ATG,CTG	M71L	XP_016855922.1
XM_017000434.1	382	Missense Mutation	ATG,CTG	M71L	XP_016855923.1
XM_017000435.1	382	Missense Mutation	ATG,CTG	M107L	XP_016855924.1
XM_017000436.1	382	Missense Mutation	ATG,CTG	M107L	XP_016855925.1
XM_017000437.1	382	Intron			XP_016855926.1
XM_017000438.1	382	Intron			XP_016855927.1
XM_017000439.1	382	Intron			XP_016855928.1
XM_017000440.1	382	Intron			XP_016855929.1
XM_017000441.1	382	Intron			XP_016855930.1
XM_017000442.1	382	Intron			XP_016855931.1
XM_017000443.1	382	Missense Mutation	ATG,CTG	M107L	XP_016855932.1
XM_017000444.1	382	Missense Mutation	ATG,CTG	M107L	XP_016855933.1
XM_017000445.1	382	Intron			XP_016855934.1
XM_017000446.1	382	Intron			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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