Product Details

SNP ID

rs112892828

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:3225116 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGTACTTGTGACAATGTGCTCGC[C/T]GTGAATTGGATTCAGGAGGCTTGGT

Phenotype

MIM: 601337

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RFX3 PubMed Links

Gene Details

Gene

RFX3

Gene Name

regulatory factor X3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282116.1	2497	Missense Mutation	AGC,GGC	S726G	NP_001269045.1
NM_001282117.1	2497	Intron			NP_001269046.1
NM_002919.3	2497	Intron			NP_002910.1
NM_134428.2	2497	Missense Mutation	AGC,GGC	S726G	NP_602304.1
XM_006716840.1	2497	Missense Mutation	AGC,GGC	S757G	XP_006716903.1
XM_006716843.1	2497	Missense Mutation	AGC,GGC	S747G	XP_006716906.1
XM_006716844.1	2497	Missense Mutation	AGC,GGC	S747G	XP_006716907.1
XM_006716845.2	2497	Missense Mutation	AGC,GGC	S747G	XP_006716908.1
XM_006716847.3	2497	Missense Mutation	AGC,GGC	S469G	XP_006716910.1
XM_011517998.1	2497	Missense Mutation	AGC,GGC	S747G	XP_011516300.1
XM_011517999.1	2497	Missense Mutation	AGC,GGC	S747G	XP_011516301.1
XM_011518000.1	2497	Missense Mutation	AGC,GGC	S722G	XP_011516302.1
XM_011518001.1	2497	Missense Mutation	AGC,GGC	S664G	XP_011516303.1
XM_017015000.1	2497	Missense Mutation	AGC,GGC	S747G	XP_016870489.1
XM_017015001.1	2497	Missense Mutation	AGC,GGC	S701G	XP_016870490.1
XM_017015002.1	2497	Missense Mutation	AGC,GGC	S478G	XP_016870491.1

View Full Product Details