Product Details

SNP ID

rs148424815

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:1693706 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCACCTTGGTGGGTGTGCCAGAG[C/T]ACACATCCTGGAAAACAGAAGCATG

Phenotype

MIM: 602422

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FAM53A PubMed Links

Gene Details

Gene

FAM53A

Gene Name

family with sequence similarity 53 member A

There are no transcripts associated with this gene.

Gene

SLBP

Gene Name

stem-loop binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001306074.1	1257	Missense Mutation	TAC,TGC	Y200C	NP_001293003.1
NM_001306075.1	1257	Missense Mutation	TAC,TGC	Y196C	NP_001293004.1
NM_006527.3	1257	Missense Mutation	TAC,TGC	Y235C	NP_006518.1

View Full Product Details