Product Details

SNP ID

rs149772045

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81985511 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCATGTCTTATACCCTCCAGGTTC[A/G]CATCGCTTTGCAGCTGGACGATGGC

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	386	Missense Mutation	CAC,CGC	H93R	NP_001238817.1
NM_024083.3	386	Missense Mutation	CAC,CGC	H93R	NP_076988.1
XM_011523601.2	386	Missense Mutation	CAC,CGC	H93R	XP_011521903.1
XM_011523602.2	386	Missense Mutation	CAC,CGC	H93R	XP_011521904.1
XM_017025036.1	386	Missense Mutation	CAC,CGC	H93R	XP_016880525.1
XM_017025037.1	386	Missense Mutation	CAC,CGC	H93R	XP_016880526.1
XM_017025038.1	386	Missense Mutation	CAC,CGC	H16R	XP_016880527.1
XM_017025039.1	386	Missense Mutation	CAC,CGC	H16R	XP_016880528.1
XM_017025040.1	386	Missense Mutation	CAC,CGC	H16R	XP_016880529.1
XM_017025041.1	386	Missense Mutation	CAC,CGC	H16R	XP_016880530.1
XM_017025042.1	386	Missense Mutation	CAC,CGC	H93R	XP_016880531.1
XM_017025043.1	386	Missense Mutation	CAC,CGC	H16R	XP_016880532.1
XM_017025044.1	386	Missense Mutation	CAC,CGC	H16R	XP_016880533.1

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