Product Details

SNP ID

rs144180694

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:20253830 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTACATGCTGTATTACCTTGTGCA[C/T]GATTATCTTTCTCTGAGCAGGTTCA

Phenotype

MIM: 607205

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PUM2 PubMed Links

Gene Details

Gene

PUM2

Gene Name

pumilio RNA binding family member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282752.1	2910	Missense Mutation	ATG,GTG	M963V	NP_001269681.1
NM_001282790.1	2910	Missense Mutation	ATG,GTG	M940V	NP_001269719.1
NM_001282791.1	2910	Missense Mutation	ATG,GTG	M884V	NP_001269720.1
NM_015317.2	2910	Missense Mutation	ATG,GTG	M1019V	NP_056132.1
XM_005262607.1	2910	Missense Mutation	ATG,GTG	M1021V	XP_005262664.1
XM_005262609.1	2910	Missense Mutation	ATG,GTG	M942V	XP_005262666.1
XM_005262610.1	2910	Missense Mutation	ATG,GTG	M940V	XP_005262667.1
XM_006711973.1	2910	Missense Mutation	ATG,GTG	M1021V	XP_006712036.1
XM_006711974.2	2910	Missense Mutation	ATG,GTG	M1021V	XP_006712037.1
XM_006711975.2	2910	Missense Mutation	ATG,GTG	M965V	XP_006712038.1
XM_011532719.1	2910	Missense Mutation	ATG,GTG	M1021V	XP_011531021.1
XM_011532720.2	2910	Missense Mutation	ATG,GTG	M1021V	XP_011531022.1
XM_011532721.2	2910	Missense Mutation	ATG,GTG	M1021V	XP_011531023.1
XM_011532723.1	2910	Missense Mutation	ATG,GTG	M795V	XP_011531025.1
XM_011532724.2	2910	Intron			XP_011531026.1
XM_011532725.2	2910	Intron			XP_011531027.1
XM_017003701.1	2910	Missense Mutation	ATG,GTG	M1019V	XP_016859190.1
XM_017003702.1	2910	Missense Mutation	ATG,GTG	M1019V	XP_016859191.1
XM_017003703.1	2910	Missense Mutation	ATG,GTG	M965V	XP_016859192.1
XM_017003704.1	2910	Missense Mutation	ATG,GTG	M965V	XP_016859193.1
XM_017003705.1	2910	Missense Mutation	ATG,GTG	M965V	XP_016859194.1
XM_017003706.1	2910	Missense Mutation	ATG,GTG	M965V	XP_016859195.1
XM_017003707.1	2910	Missense Mutation	ATG,GTG	M942V	XP_016859196.1
XM_017003708.1	2910	Missense Mutation	ATG,GTG	M942V	XP_016859197.1
XM_017003709.1	2910	Missense Mutation	ATG,GTG	M940V	XP_016859198.1
XM_017003710.1	2910	Missense Mutation	ATG,GTG	M940V	XP_016859199.1
XM_017003711.1	2910	Missense Mutation	ATG,GTG	M940V	XP_016859200.1
XM_017003712.1	2910	Missense Mutation	ATG,GTG	M940V	XP_016859201.1
XM_017003713.1	2910	Missense Mutation	ATG,GTG	M884V	XP_016859202.1
XM_017003714.1	2910	Missense Mutation	ATG,GTG	M793V	XP_016859203.1
XM_017003715.1	2910	Missense Mutation	ATG,GTG	M714V	XP_016859204.1

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