Product Details

SNP ID

rs2444842

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:75758725 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GTGAAGGGTGGAAGGCCGCGGGGGC[A/G]GGGCAGCCTGGCTCTCTCAGACGTG

Phenotype

MIM: 604313 MIM: 147557

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GALK1 PubMed Links

Gene Details

Gene

GALK1

Gene Name

galactokinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000154.1		Intron			NP_000145.1

Gene

ITGB4

Gene Name

integrin subunit beta 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000213.4		Intron			NP_000204.3
NM_001005619.1		Intron			NP_001005619.1
NM_001005731.2		Intron			NP_001005731.1
NM_001321123.1		Intron			NP_001308052.1
XM_005257309.2		Intron			XP_005257366.1
XM_005257311.4		Intron			XP_005257368.1
XM_006721866.3		Intron			XP_006721929.1
XM_006721867.3		Intron			XP_006721930.1
XM_006721868.3		Intron			XP_006721931.1
XM_006721870.3		Intron			XP_006721933.1
XM_011524751.2		Intron			XP_011523053.1
XM_011524752.2		Intron			XP_011523054.1

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