Product Details

SNP ID

rs201503698

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:82019369 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTGCCTGGGCCTGCCGCACGCCG[C/T]GGACTGCTGCTTCTGCGGTGAGAAA

Phenotype

MIM: 606236 MIM: 615128

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	149	Intron			NP_001238817.1
NM_024083.3	149	Intron			NP_076988.1
XM_011523601.2	149	Intron			XP_011521903.1
XM_011523602.2	149	Intron			XP_011521904.1
XM_017025036.1	149	Intron			XP_016880525.1
XM_017025037.1	149	Intron			XP_016880526.1
XM_017025038.1	149	Intron			XP_016880527.1
XM_017025039.1	149	Intron			XP_016880528.1
XM_017025040.1	149	Intron			XP_016880529.1
XM_017025041.1	149	Intron			XP_016880530.1
XM_017025042.1	149	Intron			XP_016880531.1
XM_017025043.1	149	Intron			XP_016880532.1
XM_017025044.1	149	Intron			XP_016880533.1

Gene

LRRC45

Gene Name

leucine rich repeat containing 45

There are no transcripts associated with this gene.

Gene

STRA13

Gene Name

stimulated by retinoic acid 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271006.1	149	Missense Mutation	CAC,CGC	H52R	NP_001257935.1
NM_001271007.1	149	Missense Mutation	CAC,CGC	H34R	NP_001257936.1
NM_144998.3	149	Missense Mutation	CAC,CGC	H34R	NP_659435.2
XM_005256339.2	149	Missense Mutation	ACG,GCG	T96A	XP_005256396.1
XM_017024326.1	149	Silent Mutation	CCA,CCG	P138P	XP_016879815.1
XM_017024327.1	149	Missense Mutation	ACG,GCG	T96A	XP_016879816.1
XM_017024328.1	149	Missense Mutation	CAC,CGC	H52R	XP_016879817.1
XM_017024329.1	149	Missense Mutation	CAC,CGC	H34R	XP_016879818.1

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