Product Details

SNP ID

rs3827522

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:42460069 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGTCCCAGAAACCGATTCATTCCTG[A/G]GTTCTGCAGGCCATAATCGGAAGTG

Phenotype

MIM: 608500

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PRICKLE1 PubMed Links

Gene Details

Gene

PRICKLE1

Gene Name

prickle planar cell polarity protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144881.1	2341	Missense Mutation	CCA,TCA	P746S	NP_001138353.1
NM_001144882.1	2341	Missense Mutation	CCA,TCA	P746S	NP_001138354.1
NM_001144883.1	2341	Missense Mutation	CCA,TCA	P746S	NP_001138355.1
NM_153026.2	2341	Missense Mutation	CCA,TCA	P746S	NP_694571.2
XM_011537946.1	2341	Missense Mutation	CCA,TCA	P746S	XP_011536248.1
XM_011537947.2	2341	Missense Mutation	CCA,TCA	P746S	XP_011536249.1
XM_017018838.1	2341	Missense Mutation	CCA,TCA	P746S	XP_016874327.1
XM_017018839.1	2341	Missense Mutation	CCA,TCA	P746S	XP_016874328.1
XM_017018840.1	2341	Missense Mutation	CCA,TCA	P746S	XP_016874329.1

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