Product Details

SNP ID

rs16988828

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:30607574 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GATTATATGTTTGACTCCTCACCAG[A/G]CAAGATCTCCGTTAATTCAGTCATT

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243225.1		Intron			NP_001230154.1
NM_001282327.1		Intron			NP_001269256.1
NM_001282328.1		Intron			NP_001269257.1
NM_014303.3		Intron			NP_055118.1
XM_006724173.1		Intron			XP_006724236.1
XM_017028678.1		Intron			XP_016884167.1

Gene

TCN2

Gene Name

transcobalamin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000355.3		Intron			NP_000346.2
NM_001184726.1		Intron			NP_001171655.1

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