Product Details

SNP ID

rs2074504

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:30562468 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATGAGGACCTCTGTGCCTTCTACCA[T/C]CCAGGCGTCAATGGACCTCCTCTGT

Phenotype

MIM: 603429 MIM: 143024

Polymorphism

T/C, 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	1113	Silent Mutation	CAC,CAT	H159H	NP_001070965.1
NM_025263.3	1113	Silent Mutation	CAC,CAT	H180H	NP_079539.2

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