Product Details

SNP ID

rs56801248

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:3478420 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCAGCATCCGCACGCATAGTACC[C/T]CTGGTCCTGGTATAGGTTGGACTCC

Phenotype

MIM: 600729

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NFIC PubMed Links

Gene Details

Gene

NFIC

Gene Name

nuclear factor I C

There are no transcripts associated with this gene.

Gene

SMIM24

Gene Name

small integral membrane protein 24

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136503.1	317	Missense Mutation	AGT,GGT	S80G	NP_001129975.1

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