Product Details

SNP ID

rs200684519

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31829855 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAAGGGAGGGTCTGGGTCAGGCCC[C/T]ACCATTGAGGAGGTGGATTAGGGGC

Phenotype

MIM: 605447 MIM: 603012

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C6orf48 PubMed Links

Gene Details

Gene

C6orf48

Gene Name

chromosome 6 open reading frame 48

There are no transcripts associated with this gene.

Gene

HSPA1B

Gene Name

heat shock protein family A (Hsp70) member 1B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005346.4	2121	Silent Mutation	CCC,CCT	P635P	NP_005337.2

Gene

SNORD48

Gene Name

small nucleolar RNA, C/D box 48

There are no transcripts associated with this gene.

Gene

SNORD52

Gene Name

small nucleolar RNA, C/D box 52

There are no transcripts associated with this gene.

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