Product Details

SNP ID

hCV2271170

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:2946040 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTCTACGTTGTCCCCATACAGCC[C/T]GTGGAGACTCTTCCCGAGGAAGTTC

Phenotype

MIM: 300180

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ARSE PubMed Links

Gene Details

Gene

ARSE

Gene Name

arylsulfatase E (chondrodysplasia punctata 1)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000047.2	969	Intron			NP_000038.2
NM_001282628.1	969	Intron			NP_001269557.1
NM_001282631.1	969	Missense Mutation	AGG,GGG	R272G	NP_001269560.1

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