Product Details

SNP ID

rs147861765

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81983668 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGCCGTGAGGGGCCTGAGAACAT[G/T]GTGGGTCGTGCTCTGGGGGAGGCTG

Phenotype

MIM: 606236

Polymorphism

G/T, Transversion 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	381	Missense Mutation	ATG,ATT	M91I	NP_001238817.1
NM_024083.3	381	Missense Mutation	ATG,ATT	M91I	NP_076988.1
XM_011523601.2	381	Missense Mutation	ATG,ATT	M91I	XP_011521903.1
XM_011523602.2	381	Missense Mutation	ATG,ATT	M91I	XP_011521904.1
XM_017025036.1	381	Missense Mutation	ATG,ATT	M91I	XP_016880525.1
XM_017025037.1	381	Missense Mutation	ATG,ATT	M91I	XP_016880526.1
XM_017025038.1	381	Missense Mutation	ATG,ATT	M14I	XP_016880527.1
XM_017025039.1	381	Missense Mutation	ATG,ATT	M14I	XP_016880528.1
XM_017025040.1	381	Missense Mutation	ATG,ATT	M14I	XP_016880529.1
XM_017025041.1	381	Missense Mutation	ATG,ATT	M14I	XP_016880530.1
XM_017025042.1	381	Missense Mutation	ATG,ATT	M91I	XP_016880531.1
XM_017025043.1	381	Missense Mutation	ATG,ATT	M14I	XP_016880532.1
XM_017025044.1	381	Missense Mutation	ATG,ATT	M14I	XP_016880533.1

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