Product Details

SNP ID: rs141174547
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:58523 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCTGGCAGCGTTTCCGGTACAGGTC[A/G]AACTTGCCAAAGCTGATGTAGGGCA
Phenotype: MIM: 606007 MIM: 614403
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: POLR3K PubMed Links

Gene Details

Gene: POLR3K
Gene Name: RNA polymerase III subunit K

There are no transcripts associated with this gene.

Gene: RHBDF1
Gene Name: rhomboid 5 homolog 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022450.3	2595	Silent Mutation	TTC,TTT	F795F	NP_071895.3
XM_005255494.1	2595	Silent Mutation	TTC,TTT	F795F	XP_005255551.1
XM_005255498.2	2595	Silent Mutation	TTC,TTT	F479F	XP_005255555.1
XM_006720921.1	2595	Silent Mutation	TTC,TTT	F818F	XP_006720984.1
XM_017023556.1	2595	Silent Mutation	TTC,TTT	F818F	XP_016879045.1
XM_017023557.1	2595	Silent Mutation	TTC,TTT	F764F	XP_016879046.1
XM_017023558.1	2595	Intron			XP_016879047.1

Gene: SNRNP25
Gene Name: small nuclear ribonucleoprotein U11/U12 subunit 25

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024571.3	2595	Intron			NP_078847.1

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