Product Details

SNP ID

rs189066133

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:155481058 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATTATCTGAACAAAACTGGTCAAC[A/G]TGGCCATAGTGAAGAGCCGTGCATG

Phenotype

MIM: 612835

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PLCH1 PubMed Links

Gene Details

Gene

PLCH1

Gene Name

phospholipase C eta 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130960.1	5246	Silent Mutation	CAC,CAT	H1664H	NP_001124432.1
NM_001130961.1	5246	UTR 3			NP_001124433.1
NM_014996.2	5246	Silent Mutation	CAC,CAT	H1626H	NP_055811.1
XM_005247238.1	5246	Silent Mutation	CAC,CAT	H1676H	XP_005247295.1
XM_005247239.1	5246	Silent Mutation	CAC,CAT	H1644H	XP_005247296.1
XM_011512560.2	5246	Silent Mutation	CAC,CAT	H1676H	XP_011510862.1
XM_011512561.2	5246	Silent Mutation	CAC,CAT	H1676H	XP_011510863.1
XM_011512562.2	5246	Silent Mutation	CAC,CAT	H1676H	XP_011510864.1
XM_011512564.2	5246	Silent Mutation	CAC,CAT	H1656H	XP_011510866.1
XM_011512565.2	5246	Silent Mutation	CAC,CAT	H1646H	XP_011510867.1
XM_011512566.2	5246	Silent Mutation	CAC,CAT	H1646H	XP_011510868.1
XM_011512567.1	5246	UTR 3			XP_011510869.1
XM_017005923.1	5246	Silent Mutation	CAC,CAT	H1675H	XP_016861412.1
XM_017005924.1	5246	Silent Mutation	CAC,CAT	H1655H	XP_016861413.1
XM_017005925.1	5246	Silent Mutation	CAC,CAT	H1652H	XP_016861414.1
XM_017005926.1	5246	Silent Mutation	CAC,CAT	H1646H	XP_016861415.1
XM_017005927.1	5246	Intron			XP_016861416.1
XM_017005928.1	5246	UTR 3			XP_016861417.1
XM_017005929.1	5246	UTR 3			XP_016861418.1

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