Product Details

SNP ID

rs17847328

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:143942137 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCAGTTGGAATGAAGGCGAGATGG[C/T]GTGGAAGGTGCTCAGAAGGTCTCCG

Phenotype

MIM: 603044

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PLAGL1 PubMed Links

Gene Details

Gene

PLAGL1

Gene Name

PLAG1 like zinc finger 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080951.2	1362	Missense Mutation	ACC,GCC	T227A	NP_001074420.1
NM_001080952.2	1362	Missense Mutation	ACC,GCC	T227A	NP_001074421.1
NM_001080953.2	1362	Missense Mutation	ACC,GCC	T227A	NP_001074422.1
NM_001080954.2	1362	Missense Mutation	ACC,GCC	T227A	NP_001074423.1
NM_001080955.2	1362	Missense Mutation	ACC,GCC	T175A	NP_001074424.1
NM_001080956.2	1362	Missense Mutation	ACC,GCC	T175A	NP_001074425.1
NM_001289037.1	1362	Missense Mutation	ACC,GCC	T175A	NP_001275966.1
NM_001289038.1	1362	Missense Mutation	ACC,GCC	T175A	NP_001275967.1
NM_001289039.1	1362	Missense Mutation	ACC,GCC	T175A	NP_001275968.1
NM_001289040.1	1362	Missense Mutation	ACC,GCC	T175A	NP_001275969.1
NM_001289041.1	1362	Missense Mutation	ACC,GCC	T175A	NP_001275970.1
NM_001289042.1	1362	Missense Mutation	ACC,GCC	T227A	NP_001275971.1
NM_001289043.1	1362	Missense Mutation	ACC,GCC	T227A	NP_001275972.1
NM_001289044.1	1362	Missense Mutation	ACC,GCC	T227A	NP_001275973.1
NM_001289045.1	1362	Missense Mutation	ACC,GCC	T227A	NP_001275974.1
NM_001289046.1	1362	Missense Mutation	ACC,GCC	T227A	NP_001275975.1
NM_001289047.1	1362	Missense Mutation	ACC,GCC	T227A	NP_001275976.1
NM_001289048.1	1362	Missense Mutation	ACC,GCC	T227A	NP_001275977.1
NM_001289049.1	1362	Missense Mutation	ACC,GCC	T227A	NP_001275978.1
NM_001317156.1	1362	Missense Mutation	ACC,GCC	T227A	NP_001304085.1
NM_001317157.1	1362	Missense Mutation	ACC,GCC	T227A	NP_001304086.1
NM_001317158.1	1362	Missense Mutation	ACC,GCC	T175A	NP_001304087.1
NM_001317159.1	1362	Missense Mutation	ACC,GCC	T227A	NP_001304088.1
NM_001317160.1	1362	Missense Mutation	ACC,GCC	T175A	NP_001304089.1
NM_001317161.1	1362	Missense Mutation	ACC,GCC	T227A	NP_001304090.1
NM_001317162.1	1362	Missense Mutation	ACC,GCC	T227A	NP_001304091.1
NM_006718.4	1362	Missense Mutation	ACC,GCC	T227A	NP_006709.2

Gene

ZC2HC1B

Gene Name

zinc finger C2HC-type containing 1B

There are no transcripts associated with this gene.

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