Product Details

SNP ID

rs151104269

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:99554313 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCCCGTGGGGTGTGCGCTCACCT[C/T]GGTTTTCCTTGGCCAGGTTGTCGGC

Phenotype

MIM: 601464

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AFF3 PubMed Links

Gene Details

Gene

AFF3

Gene Name

AF4/FMR2 family member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001025108.1	3728	Missense Mutation	CAA,CGA	Q1211R	NP_001020279.1
NM_002285.2	3728	Missense Mutation	CAA,CGA	Q1186R	NP_002276.2
XM_005263943.3	3728	Missense Mutation	CAA,CGA	Q1186R	XP_005264000.2
XM_005263945.3	3728	Missense Mutation	CAA,CGA	Q855R	XP_005264002.1
XM_011511169.2	3728	Missense Mutation	CAA,CGA	Q1210R	XP_011509471.1
XM_011511170.2	3728	Missense Mutation	CAA,CGA	Q1263R	XP_011509472.1
XM_011511171.2	3728	Missense Mutation	CAA,CGA	Q1195R	XP_011509473.1
XM_011511172.2	3728	Missense Mutation	CAA,CGA	Q1195R	XP_011509474.1
XM_011511173.2	3728	Missense Mutation	CAA,CGA	Q1211R	XP_011509475.1
XM_011511174.2	3728	Missense Mutation	CAA,CGA	Q1211R	XP_011509476.1
XM_011511175.2	3728	Missense Mutation	CAA,CGA	Q1186R	XP_011509477.1
XM_011511176.2	3728	Missense Mutation	CAA,CGA	Q1186R	XP_011509478.1
XM_011511177.2	3728	Missense Mutation	CAA,CGA	Q1186R	XP_011509479.1
XM_011511178.2	3728	Missense Mutation	CAA,CGA	Q825R	XP_011509480.1
XM_011511179.2	3728	Missense Mutation	CAA,CGA	Q824R	XP_011509481.1
XM_017004085.1	3728	Missense Mutation	CAA,CGA	Q854R	XP_016859574.1
XM_017004086.1	3728	Missense Mutation	CAA,CGA	Q822R	XP_016859575.1
XM_017004087.1	3728	Missense Mutation	CAA,CGA	Q821R	XP_016859576.1

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