Product Details

SNP ID

rs2228432

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:2915620 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGCCATGCTGACTTTTCCCCAGGAA[C/T]GCACTCGTGGTCACAAGGGGAATGT

Phenotype

MIM: 300002

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ARSD PubMed Links

Gene Details

Gene

ARSD

Gene Name

arylsulfatase D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001669.3	1006	Silent Mutation	GCA,GCG	A312A	NP_001660.2
NM_009589.3	1006	Silent Mutation	GCA,GCG	A312A	NP_033667.2
XM_005274514.2	1006	Silent Mutation	GCA,GCG	A312A	XP_005274571.1
XM_005274515.2	1006	Silent Mutation	GCA,GCG	A312A	XP_005274572.1

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