Product Details

SNP ID

rs200939562

Assay Type

Functionally tested

NCBI dbSNP Submissions

10

Location

Chr.1:109280419 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTGGTAGGTCCTGGGACTGCCAC[A/T]TTCCTGGGGGGCTGCAGATTGCTGC

Phenotype

MIM: 604265 MIM: 613126

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CELSR2 PubMed Links

Gene Details

Gene

CELSR2

Gene Name

cadherin EGF LAG seven-pass G-type receptor 2

There are no transcripts associated with this gene.

Gene

PSRC1

Gene Name

proline and serine rich coiled-coil 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005290.3	1204	Missense Mutation	AGT,TGT	S292C	NP_001005290.1
NM_001032291.2	1204	Missense Mutation	AAA,AAT	K325N	NP_001027462.1
NM_032636.7	1204	Missense Mutation	AAA,AAT	K325N	NP_116025.1
XM_005271283.2	1204	Missense Mutation	AAA,AAT	K325N	XP_005271340.1
XM_011542306.2	1204	Missense Mutation	AAA,AAT	K309N	XP_011540608.1
XM_017002560.1	1204	Missense Mutation	AAA,AAT	K355N	XP_016858049.1
XM_017002561.1	1204	Missense Mutation	AAA,AAT	K355N	XP_016858050.1
XM_017002562.1	1204	Missense Mutation	AAA,AAT	K355N	XP_016858051.1
XM_017002563.1	1204	Missense Mutation	AAA,AAT	K355N	XP_016858052.1
XM_017002564.1	1204	Missense Mutation	AAA,AAT	K355N	XP_016858053.1
XM_017002565.1	1204	Missense Mutation	AAA,AAT	K355N	XP_016858054.1
XM_017002566.1	1204	Missense Mutation	AAA,AAT	K355N	XP_016858055.1
XM_017002567.1	1204	Missense Mutation	AAA,AAT	K355N	XP_016858056.1
XM_017002568.1	1204	Missense Mutation	AAA,AAT	K325N	XP_016858057.1
XM_017002569.1	1204	Missense Mutation	AAA,AAT	K325N	XP_016858058.1
XM_017002570.1	1204	Missense Mutation	AAA,AAT	K325N	XP_016858059.1
XM_017002571.1	1204	Missense Mutation	AAA,AAT	K309N	XP_016858060.1
XM_017002572.1	1204	Missense Mutation	AAA,AAT	K309N	XP_016858061.1
XM_017002573.1	1204	Missense Mutation	AAA,AAT	K309N	XP_016858062.1
XM_017002574.1	1204	Missense Mutation	AAA,AAT	K309N	XP_016858063.1
XM_017002575.1	1204	Missense Mutation	AAA,AAT	K309N	XP_016858064.1
XM_017002576.1	1204	Missense Mutation	AGT,TGT	S292C	XP_016858065.1
XM_017002577.1	1204	Missense Mutation	AGT,TGT	S292C	XP_016858066.1

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