Product Details

SNP ID

rs144824689

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:42693081 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTCCTCAAAGTACTTCTTCCAGT[A/C]CTGCCAGGGGATGGGGTAGAAGGCC

Phenotype

MIM: 607922

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

A4GALT PubMed Links

Gene Details

Gene

A4GALT

Gene Name

alpha 1,4-galactosyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318038.1	1359	Missense Mutation	GAC,TAC	D291Y	NP_001304967.1
NM_017436.5	1359	Missense Mutation	GAC,TAC	D291Y	NP_059132.1
XM_005261644.2	1359	Missense Mutation	GAC,TAC	D291Y	XP_005261701.1
XM_005261646.4	1359	Missense Mutation	GAC,TAC	D291Y	XP_005261703.1
XM_005261647.2	1359	Missense Mutation	GAC,TAC	D291Y	XP_005261704.1
XM_005261648.3	1359	Missense Mutation	GAC,TAC	D291Y	XP_005261705.1
XM_006724265.3	1359	Missense Mutation	GAC,TAC	D291Y	XP_006724328.1
XM_006724266.3	1359	Missense Mutation	GAC,TAC	D291Y	XP_006724329.1
XM_011530233.2	1359	Missense Mutation	GAC,TAC	D291Y	XP_011528535.1
XM_017028831.1	1359	Missense Mutation	GAC,TAC	D291Y	XP_016884320.1

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