Product Details

SNP ID

rs116377893

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:124963149 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGTTGAACCCTCCCAGCACCCGCT[C/G]TTCCTTCCCCAGCCCCCGACTGTCC

Phenotype

MIM: 602532

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

RNF217 PubMed Links

Gene Details

Gene

RNF217

Gene Name

ring finger protein 217

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286398.2	740	Missense Mutation	TCT,TGT	S202C	NP_001273327.1
NM_152553.4	740	Intron			NP_689766.1
XM_011535494.2	740	Missense Mutation	TCT,TGT	S202C	XP_011533796.1
XM_011535495.2	740	Missense Mutation	TCT,TGT	S202C	XP_011533797.1
XM_011535496.2	740	Missense Mutation	TCT,TGT	S202C	XP_011533798.1
XM_011535499.2	740	Missense Mutation	TCT,TGT	S202C	XP_011533801.1
XM_011535500.2	740	Intron			XP_011533802.1
XM_017010317.1	740	Missense Mutation	TCT,TGT	S202C	XP_016865806.1

Gene

RNF217-AS1

Gene Name

RNF217 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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