Product Details

SNP ID

rs145684585

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81985528 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGGTTCGCATCGCTTTGCAGCTG[A/G]ACGATGGCTCGAGGTTGCAGGACTC

Phenotype

MIM: 606236

Polymorphism

A/G, 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	403	Missense Mutation	AAC,GAC	N99D	NP_001238817.1
NM_024083.3	403	Missense Mutation	AAC,GAC	N99D	NP_076988.1
XM_011523601.2	403	Missense Mutation	AAC,GAC	N99D	XP_011521903.1
XM_011523602.2	403	Missense Mutation	AAC,GAC	N99D	XP_011521904.1
XM_017025036.1	403	Missense Mutation	AAC,GAC	N99D	XP_016880525.1
XM_017025037.1	403	Missense Mutation	AAC,GAC	N99D	XP_016880526.1
XM_017025038.1	403	Missense Mutation	AAC,GAC	N22D	XP_016880527.1
XM_017025039.1	403	Missense Mutation	AAC,GAC	N22D	XP_016880528.1
XM_017025040.1	403	Missense Mutation	AAC,GAC	N22D	XP_016880529.1
XM_017025041.1	403	Missense Mutation	AAC,GAC	N22D	XP_016880530.1
XM_017025042.1	403	Missense Mutation	AAC,GAC	N99D	XP_016880531.1
XM_017025043.1	403	Missense Mutation	AAC,GAC	N22D	XP_016880532.1
XM_017025044.1	403	Missense Mutation	AAC,GAC	N22D	XP_016880533.1

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