Product Details

SNP ID: rs201748229
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:139561317 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTTCTCCACTATTTCCTGGATGTGC[A/G]CATCCTTCCAGAGGTTGGGGGTCTG
Phenotype: MIM: 608702
Polymorphism: A/G, 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	949	Missense Mutation	GCG,GTG	A62V	NP_001186976.1
NM_001320510.1	949	Missense Mutation	GCG,GTG	A245V	NP_001307439.1
NM_001320511.1	949	Missense Mutation	GCG,GTG	A151V	NP_001307440.1
NM_001320512.1	949	Missense Mutation	GCG,GTG	A151V	NP_001307441.1
NM_001320513.1	949	Missense Mutation	GCG,GTG	A41V	NP_001307442.1
NM_178177.4	949	Missense Mutation	GCG,GTG	A114V	NP_835471.1
XM_011512790.1	949	Missense Mutation	GCG,GTG	A114V	XP_011511092.1
XM_011512791.2	949	Missense Mutation	GCG,GTG	A114V	XP_011511093.1
XM_017006328.1	949	Missense Mutation	GCG,GTG	A245V	XP_016861817.1
XM_017006329.1	949	Missense Mutation	GCG,GTG	A245V	XP_016861818.1
XM_017006330.1	949	Missense Mutation	GCG,GTG	A245V	XP_016861819.1
XM_017006331.1	949	Missense Mutation	GCG,GTG	A245V	XP_016861820.1
XM_017006332.1	949	Missense Mutation	GCG,GTG	A245V	XP_016861821.1
XM_017006333.1	949	Missense Mutation	GCG,GTG	A245V	XP_016861822.1
XM_017006334.1	949	Missense Mutation	GCG,GTG	A245V	XP_016861823.1
XM_017006335.1	949	Missense Mutation	GCG,GTG	A151V	XP_016861824.1
XM_017006336.1	949	Missense Mutation	GCG,GTG	A151V	XP_016861825.1
XM_017006337.1	949	Missense Mutation	GCG,GTG	A151V	XP_016861826.1
XM_017006338.1	949	Missense Mutation	GCG,GTG	A114V	XP_016861827.1
XM_017006339.1	949	UTR 3			XP_016861828.1
XM_017006340.1	949	UTR 3			XP_016861829.1
XM_017006341.1	949	UTR 3			XP_016861830.1
XM_017006342.1	949	UTR 3			XP_016861831.1
XM_017006343.1	949	UTR 3			XP_016861832.1
XM_017006344.1	949	UTR 3			XP_016861833.1