Product Details

SNP ID: rs200297242
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:139561359 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGGGGTCTGGAAGGTCTTCAAGACG[C/T]CTGCCCCACAGAGAAGCTTCAGCTC
Phenotype: MIM: 608702
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: LOC100507291 PubMed Links

Gene Details

There are no transcripts associated with this gene.

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001200047.2	907	Missense Mutation	GAC,GGC	D48G	NP_001186976.1
NM_001320510.1	907	Missense Mutation	GAC,GGC	D231G	NP_001307439.1
NM_001320511.1	907	Missense Mutation	GAC,GGC	D137G	NP_001307440.1
NM_001320512.1	907	Missense Mutation	GAC,GGC	D137G	NP_001307441.1
NM_001320513.1	907	Missense Mutation	GAC,GGC	D27G	NP_001307442.1
NM_178177.4	907	Missense Mutation	GAC,GGC	D100G	NP_835471.1
XM_011512790.1	907	Missense Mutation	GAC,GGC	D100G	XP_011511092.1
XM_011512791.2	907	Missense Mutation	GAC,GGC	D100G	XP_011511093.1
XM_017006328.1	907	Missense Mutation	GAC,GGC	D231G	XP_016861817.1
XM_017006329.1	907	Missense Mutation	GAC,GGC	D231G	XP_016861818.1
XM_017006330.1	907	Missense Mutation	GAC,GGC	D231G	XP_016861819.1
XM_017006331.1	907	Missense Mutation	GAC,GGC	D231G	XP_016861820.1
XM_017006332.1	907	Missense Mutation	GAC,GGC	D231G	XP_016861821.1
XM_017006333.1	907	Missense Mutation	GAC,GGC	D231G	XP_016861822.1
XM_017006334.1	907	Missense Mutation	GAC,GGC	D231G	XP_016861823.1
XM_017006335.1	907	Missense Mutation	GAC,GGC	D137G	XP_016861824.1
XM_017006336.1	907	Missense Mutation	GAC,GGC	D137G	XP_016861825.1
XM_017006337.1	907	Missense Mutation	GAC,GGC	D137G	XP_016861826.1
XM_017006338.1	907	Missense Mutation	GAC,GGC	D100G	XP_016861827.1
XM_017006339.1	907	UTR 3			XP_016861828.1
XM_017006340.1	907	UTR 3			XP_016861829.1
XM_017006341.1	907	UTR 3			XP_016861830.1
XM_017006342.1	907	UTR 3			XP_016861831.1
XM_017006343.1	907	UTR 3			XP_016861832.1
XM_017006344.1	907	UTR 3			XP_016861833.1