Product Details

SNP ID

rs200162438

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:133360014 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGCCTGGTGCACCGGAGGAGGAG[C/G]AGGGAGGACCAGATGGACGGTGACG

Phenotype

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

Polymorphism

C/G, Transversion 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

SNORD36B

Gene Name

small nucleolar RNA, C/D box 36B

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	450	Missense Mutation	AGC,AGG	S134R	NP_001265857.1
NM_017503.4	450	Missense Mutation	AGC,AGG	S134R	NP_059973.4

Gene

SURF4

Gene Name

surfeit 4

There are no transcripts associated with this gene.

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