Product Details

SNP ID

rs9606756

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:30610873 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTTGTACCATTTTCTTTTCTAAGAA[A/G]TACCAGAGATGGACAGCCATCTGGT

Phenotype

MIM: 605819 MIM: 613441

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PES1 PubMed Links

Gene Details

Gene

PES1

Gene Name

pescadillo ribosomal biogenesis factor 1

There are no transcripts associated with this gene.

Gene

TCN2

Gene Name

transcobalamin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000355.3	316	Missense Mutation	ATA,GTA	I23V	NP_000346.2
NM_001184726.1	316	Missense Mutation	ATA,GTA	I23V	NP_001171655.1

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