Product Details

SNP ID

rs139199708

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81985510 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCATGTCTTATACCCTCCAGGTT[C/T]GCATCGCTTTGCAGCTGGACGATGG

Phenotype

MIM: 606236

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ASPSCR1 PubMed Links

Gene Details

Gene

ASPSCR1

Gene Name

ASPSCR1, UBX domain containing tether for SLC2A4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001251888.1	385	Missense Mutation	CGC,TGC	R93C	NP_001238817.1
NM_024083.3	385	Missense Mutation	CGC,TGC	R93C	NP_076988.1
XM_011523601.2	385	Missense Mutation	CGC,TGC	R93C	XP_011521903.1
XM_011523602.2	385	Missense Mutation	CGC,TGC	R93C	XP_011521904.1
XM_017025036.1	385	Missense Mutation	CGC,TGC	R93C	XP_016880525.1
XM_017025037.1	385	Missense Mutation	CGC,TGC	R93C	XP_016880526.1
XM_017025038.1	385	Missense Mutation	CGC,TGC	R16C	XP_016880527.1
XM_017025039.1	385	Missense Mutation	CGC,TGC	R16C	XP_016880528.1
XM_017025040.1	385	Missense Mutation	CGC,TGC	R16C	XP_016880529.1
XM_017025041.1	385	Missense Mutation	CGC,TGC	R16C	XP_016880530.1
XM_017025042.1	385	Missense Mutation	CGC,TGC	R93C	XP_016880531.1
XM_017025043.1	385	Missense Mutation	CGC,TGC	R16C	XP_016880532.1
XM_017025044.1	385	Missense Mutation	CGC,TGC	R16C	XP_016880533.1

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