Product Details

SNP ID

rs200481274

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:45923488 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTCCCCAGCTCTTGCATGTGGCC[A/G]TCGTGTGTGCGGGGCATAACTCCAG

Phenotype

MIM: 609709 MIM: 603360 MIM: 608325

Polymorphism

A/G, 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	397	Missense Mutation	ATC,GTC	I101V	NP_001287650.1
NM_001300722.1	397	Missense Mutation	ATC,GTC	I70V	NP_001287651.1
NM_152312.4	397	Missense Mutation	ATC,GTC	I101V	NP_689525.3
XM_005252787.2	397	Intron			XP_005252844.1
XM_006718140.1	397	Missense Mutation	ATC,GTC	I70V	XP_006718203.1
XM_006718141.3	397	Missense Mutation	ATC,GTC	I101V	XP_006718204.1
XM_011519886.1	397	Missense Mutation	ATC,GTC	I101V	XP_011518188.1
XM_011519888.1	397	Missense Mutation	ATC,GTC	I101V	XP_011518190.1
XM_011519889.1	397	Missense Mutation	ATC,GTC	I70V	XP_011518191.1
XM_011519890.1	397	Missense Mutation	ATC,GTC	I101V	XP_011518192.1
XM_011519891.1	397	Missense Mutation	ATC,GTC	I101V	XP_011518193.1
XM_011519892.2	397	Missense Mutation	ATC,GTC	I101V	XP_011518194.1
XM_011519893.1	397	Missense Mutation	ATC,GTC	I101V	XP_011518195.1
XM_017017173.1	397	Missense Mutation	ATC,GTC	I101V	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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