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SNP ID

rs202247219

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:44133712 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTCACCGCAATGGCGGCTGTGAG[A/G]GTCCTGGTGGCCTCGAGGCTCGCTG

Phenotype

MIM: 601659 MIM: 601475

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C21orf33 PubMed Links

Gene Details

Gene

C21orf33

Gene Name

chromosome 21 open reading frame 33

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320383.1		Intron			NP_001307312.1
NM_001320384.1		Intron			NP_001307313.1
NM_004649.7		Intron			NP_004640.4
NM_198155.4		Intron			NP_937798.4
XM_017028479.1		Intron			XP_016883968.1

Gene

PWP2

Gene Name

PWP2 periodic tryptophan protein homolog (yeast)

There are no transcripts associated with this gene.

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