Product Details

SNP ID

rs17046588

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:113902379 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTTGCTTTTTCTCAGCCTGATTTTT[C/G]CTTGGCTTCTTTTTCTTGGTTTCCT

Phenotype

MIM: 610010

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ARSJ PubMed Links

Gene Details

Gene

ARSJ

Gene Name

arylsulfatase family member J

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024590.3	3178	Missense Mutation	AGC,AGG	S565R	NP_078866.3
XM_005263212.4	3178	Missense Mutation	AGC,AGG	S565R	XP_005263269.1
XM_011532238.2	3178	Missense Mutation	AGC,AGG	S458R	XP_011530540.1
XM_011532239.2	3178	Missense Mutation	AGC,AGG	S449R	XP_011530541.1
XM_017008592.1	3178	Missense Mutation	AGC,AGG	S565R	XP_016864081.1
XM_017008593.1	3178	Missense Mutation	AGC,AGG	S449R	XP_016864082.1
XM_017008594.1	3178	Missense Mutation	AGC,AGG	S449R	XP_016864083.1
XM_017008595.1	3178	Missense Mutation	AGC,AGG	S449R	XP_016864084.1
XM_017008596.1	3178	Missense Mutation	AGC,AGG	S449R	XP_016864085.1
XM_017008597.1	3178	Missense Mutation	AGC,AGG	S393R	XP_016864086.1
XM_017008598.1	3178	Missense Mutation	AGC,AGG	S393R	XP_016864087.1
XM_017008599.1	3178	Missense Mutation	AGC,AGG	S393R	XP_016864088.1
XM_017008600.1	3178	Missense Mutation	AGC,AGG	S393R	XP_016864089.1

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