Product Details

SNP ID

rs200149009

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:3225268 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTTCATCCATTTCACTTTCTACT[C/T]CACTGCCTTCATCTGCACAAACAAA

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	2345	Missense Mutation	GAA,GGA	E675G	NP_001269045.1
NM_001282117.1	2345	Intron			NP_001269046.1
NM_002919.3	2345	Intron			NP_002910.1
NM_134428.2	2345	Missense Mutation	GAA,GGA	E675G	NP_602304.1
XM_006716840.1	2345	Missense Mutation	GAA,GGA	E706G	XP_006716903.1
XM_006716843.1	2345	Missense Mutation	GAA,GGA	E696G	XP_006716906.1
XM_006716844.1	2345	Missense Mutation	GAA,GGA	E696G	XP_006716907.1
XM_006716845.2	2345	Missense Mutation	GAA,GGA	E696G	XP_006716908.1
XM_006716847.3	2345	Missense Mutation	GAA,GGA	E418G	XP_006716910.1
XM_011517998.1	2345	Missense Mutation	GAA,GGA	E696G	XP_011516300.1
XM_011517999.1	2345	Missense Mutation	GAA,GGA	E696G	XP_011516301.1
XM_011518000.1	2345	Missense Mutation	GAA,GGA	E671G	XP_011516302.1
XM_011518001.1	2345	Missense Mutation	GAA,GGA	E613G	XP_011516303.1
XM_017015000.1	2345	Missense Mutation	GAA,GGA	E696G	XP_016870489.1
XM_017015001.1	2345	Missense Mutation	GAA,GGA	E650G	XP_016870490.1
XM_017015002.1	2345	Missense Mutation	GAA,GGA	E427G	XP_016870491.1

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