Product Details

SNP ID

rs145675837

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81985555 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGATGGCTCGAGGTTGCAGGACTCT[C/T]TCTGTTCAGGCCAGACCCTCTGGGA

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	430	Missense Mutation	CTC,TTC	L108F	NP_001238817.1
NM_024083.3	430	Missense Mutation	CTC,TTC	L108F	NP_076988.1
XM_011523601.2	430	Missense Mutation	CTC,TTC	L108F	XP_011521903.1
XM_011523602.2	430	Missense Mutation	CTC,TTC	L108F	XP_011521904.1
XM_017025036.1	430	Missense Mutation	CTC,TTC	L108F	XP_016880525.1
XM_017025037.1	430	Missense Mutation	CTC,TTC	L108F	XP_016880526.1
XM_017025038.1	430	Missense Mutation	CTC,TTC	L31F	XP_016880527.1
XM_017025039.1	430	Missense Mutation	CTC,TTC	L31F	XP_016880528.1
XM_017025040.1	430	Missense Mutation	CTC,TTC	L31F	XP_016880529.1
XM_017025041.1	430	Missense Mutation	CTC,TTC	L31F	XP_016880530.1
XM_017025042.1	430	Missense Mutation	CTC,TTC	L108F	XP_016880531.1
XM_017025043.1	430	Missense Mutation	CTC,TTC	L31F	XP_016880532.1
XM_017025044.1	430	Missense Mutation	CTC,TTC	L31F	XP_016880533.1

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