Product Details

SNP ID: rs201845249
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:82019882 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCTTTGGTCTTGTCATCCTTGAAGT[A/G]CAGGTGCAGCAGCCTGCTCACCAGC
Phenotype: MIM: 606236 MIM: 615128
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	112	Intron			NP_001238817.1
NM_024083.3	112	Intron			NP_076988.1
XM_011523601.2	112	Intron			XP_011521903.1
XM_011523602.2	112	Intron			XP_011521904.1
XM_017025036.1	112	Intron			XP_016880525.1
XM_017025037.1	112	Intron			XP_016880526.1
XM_017025038.1	112	Intron			XP_016880527.1
XM_017025039.1	112	Intron			XP_016880528.1
XM_017025040.1	112	Intron			XP_016880529.1
XM_017025041.1	112	Intron			XP_016880530.1
XM_017025042.1	112	Intron			XP_016880531.1
XM_017025043.1	112	Intron			XP_016880532.1
XM_017025044.1	112	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	112	Missense Mutation	CAC,TAC	H22Y	NP_001257935.1
NM_001271007.1	112	Missense Mutation	CAC,TAC	H22Y	NP_001257936.1
NM_144998.3	112	Missense Mutation	CAC,TAC	H22Y	NP_659435.2
XM_005256339.2	112	Missense Mutation	CAC,TAC	H22Y	XP_005256396.1
XM_017024326.1	112	Missense Mutation	CAC,TAC	H22Y	XP_016879815.1
XM_017024327.1	112	Missense Mutation	CAC,TAC	H22Y	XP_016879816.1
XM_017024328.1	112	Missense Mutation	CAC,TAC	H22Y	XP_016879817.1
XM_017024329.1	112	Missense Mutation	CAC,TAC	H22Y	XP_016879818.1

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