Product Details

SNP ID

rs143778004

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:144412915 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGCAGCAGTGCTTGGCGCACGGA[C/G]AGCCCCGCGTGCAGCAAGGCGGCGA

Phenotype

MIM: 606027 MIM: 607059

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CPSF1 PubMed Links

Gene Details

Gene

CPSF1

Gene Name

cleavage and polyadenylation specific factor 1

There are no transcripts associated with this gene.

Gene

SLC39A4

Gene Name

solute carrier family 39 member 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001280557.1	1591	Silent Mutation	CTC,CTG	L55L	NP_001267486.1
NM_017767.2	1591	Silent Mutation	CTC,CTG	L528L	NP_060237.2
NM_130849.3	1591	Silent Mutation	CTC,CTG	L553L	NP_570901.2
XM_006716599.1	1591	Silent Mutation	CTC,CTG	L502L	XP_006716662.1

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