Product Details

SNP ID

rs10838531

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:45924286 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATGCCGACCAGCTCAAGGCAGGGGC[C/T]CAGCCCTTCCCCCCTCCCCTCAGCT

Phenotype

MIM: 609709 MIM: 603360 MIM: 608325

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LARGE2 PubMed Links

Gene Details

Gene

LARGE2

Gene Name

LARGE xylosyl- and glucuronyltransferase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300721.1		Intron			NP_001287650.1
NM_001300722.1		Intron			NP_001287651.1
NM_152312.4		Intron			NP_689525.3
XM_005252787.2		Intron			XP_005252844.1
XM_006718140.1		Intron			XP_006718203.1
XM_006718141.3		Intron			XP_006718204.1
XM_011519886.1		Intron			XP_011518188.1
XM_011519888.1		Intron			XP_011518190.1
XM_011519889.1		Intron			XP_011518191.1
XM_011519890.1		Intron			XP_011518192.1
XM_011519891.1		Intron			XP_011518193.1
XM_011519892.2		Intron			XP_011518194.1
XM_011519893.1		Intron			XP_011518195.1
XM_017017173.1		Intron			XP_016872662.1

Gene

PEX16

Gene Name

peroxisomal biogenesis factor 16

There are no transcripts associated with this gene.

Gene

PHF21A

Gene Name

PHD finger protein 21A

There are no transcripts associated with this gene.

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