Product Details

SNP ID

rs11546205

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:75400734 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCTTCAAAGCTGAACTGAATGAGT[C/T]TCTTACTCGGGAGCTGGCTGAAGAT

Phenotype

MIM: 600454 MIM: 600455

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RPS3 PubMed Links

Gene Details

Gene

RPS3

Gene Name

ribosomal protein S3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005.4	128	Missense Mutation	TCT,TTT	S24F	NP_000996.2
NM_001256802.1	128	Missense Mutation	TCT,TTT	S24F	NP_001243731.1
NM_001260506.1	128	Missense Mutation	TCT,TTT	S24F	NP_001247435.1
NM_001260507.1	128	Intron			NP_001247436.1

Gene

SNORD15A

Gene Name

small nucleolar RNA, C/D box 15A

There are no transcripts associated with this gene.

Gene

SNORD15B

Gene Name

small nucleolar RNA, C/D box 15B

There are no transcripts associated with this gene.

View Full Product Details