Product Details

SNP ID

rs2180403

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:49864018 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTCTGTGCTCATCTTGTATTTTTCC[G/T]GCTCCAGACCTGAAATAAGCCATTT

Phenotype

MIM: 607144 MIM: 612552

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ALG12 PubMed Links

Gene Details

Gene

ALG12

Gene Name

ALG12, alpha-1,6-mannosyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024105.3		Intron			NP_077010.1
XM_011530371.2		Intron			XP_011528673.1
XM_017028936.1		Intron			XP_016884425.1
XM_017028937.1		Intron			XP_016884426.1

Gene

ZBED4

Gene Name

zinc finger BED-type containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014838.2		Intron			NP_055653.2

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