Product Details

SNP ID

rs75378219

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:15390251 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGACAAAGTGGCTTCTCTTGGGAT[C/T]CTAAAGTTAACAAAGAAAACATCAA

Phenotype

MIM: 300091 MIM: 300931

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FIGF PubMed Links

Gene Details

Gene

FIGF

Gene Name

c-fos induced growth factor

There are no transcripts associated with this gene.

Gene

PIR

Gene Name

pirin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001018109.2	1179	Missense Mutation	AAT,GAT	N232D	NP_001018119.1
NM_003662.3	1179	Missense Mutation	AAT,GAT	N232D	NP_003653.1

Gene

PIR-FIGF

Gene Name

PIR-FIGF readthrough

There are no transcripts associated with this gene.

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