Product Details

SNP ID

rs12946329

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:80221973 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GACCCAGGCTCCTATGCCTGTTTGG[C/T]ACACACAGACACTGAGCTGGTTATG

Phenotype

MIM: 605270 MIM: 610117

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SGSH PubMed Links

Gene Details

Gene

SGSH

Gene Name

N-sulfoglucosamine sulfohydrolase

There are no transcripts associated with this gene.

Gene

SLC26A11

Gene Name

solute carrier family 26 member 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166347.1		Intron			NP_001159819.1
NM_001166348.1		Intron			NP_001159820.1
NM_001166349.1		Intron			NP_001159821.1
NM_173626.3		Intron			NP_775897.3
XM_006721833.1		Intron			XP_006721896.1
XM_011524652.1		Intron			XP_011522954.1
XM_011524653.1		Intron			XP_011522955.1
XM_011524654.1		Intron			XP_011522956.1
XM_017024505.1		Intron			XP_016879994.1
XM_017024506.1		Intron			XP_016879995.1
XM_017024507.1		Intron			XP_016879996.1

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