Product Details

SNP ID

rs17189092

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:30562096 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCTCTTATCAAGAATACCTGCCC[A/G]CCCAAGGATGACCCCCAGGTTATGG

Phenotype

MIM: 603429 MIM: 143024

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ABCF1 PubMed Links

Gene Details

Gene

ABCF1

Gene Name

ATP binding cassette subfamily F member 1

There are no transcripts associated with this gene.

Gene

GNL1

Gene Name

G protein nucleolar 1 (putative)

There are no transcripts associated with this gene.

Gene

PRR3

Gene Name

proline rich 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077497.2	1005	Silent Mutation	CCA,CCG	P123P	NP_001070965.1
NM_025263.3	1005	Silent Mutation	CCA,CCG	P144P	NP_079539.2

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