Product Details

SNP ID

rs143679153

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:133360360 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAAGAGGATGAGAAGGCAAAGCCC[C/T]CAAGAGAGAAGGCCACTGATGAGGG

Phenotype

MIM: 185640 MIM: 185620 MIM: 185630 MIM: 185660

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RPL7A PubMed Links

Gene Details

Gene

RPL7A

Gene Name

ribosomal protein L7a

There are no transcripts associated with this gene.

Gene

SNORD36A

Gene Name

small nucleolar RNA, C/D box 36A

There are no transcripts associated with this gene.

Gene

SNORD36C

Gene Name

small nucleolar RNA, C/D box 36C

There are no transcripts associated with this gene.

Gene

SURF1

Gene Name

surfeit 1

There are no transcripts associated with this gene.

Gene

SURF2

Gene Name

surfeit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278928.1	661	Missense Mutation	CCA,TCA	P205S	NP_001265857.1
NM_017503.4	661	Missense Mutation	CCA,TCA	P205S	NP_059973.4

Gene

SURF4

Gene Name

surfeit 4

There are no transcripts associated with this gene.

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