Product Details

SNP ID

rs200940379

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:7504198 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAAAGACAGTTCCAGGCCCTGCCA[A/G]GCCCACCTGCCTTGAGGTGTAAGAG

Phenotype

MIM: 607583

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C19orf45 PubMed Links

Gene Details

Gene

C19orf45

Gene Name

chromosome 19 open reading frame 45

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198534.2	796	Missense Mutation	AGC,GGC	S219G	NP_940936.2
XM_005272473.3	796	Missense Mutation	AGC,GGC	S219G	XP_005272530.1
XM_011527993.1	796	Missense Mutation	AGC,GGC	S219G	XP_011526295.1
XM_011527995.2	796	Missense Mutation	AGC,GGC	S219G	XP_011526297.1

Gene

PEX11G

Gene Name

peroxisomal biogenesis factor 11 gamma

There are no transcripts associated with this gene.

Gene

ZNF358

Gene Name

zinc finger protein 358

There are no transcripts associated with this gene.

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