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SNP ID

rs139421494

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:37862944 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACCTGAGTCGGGATGCGGAGGATA[C/T]TGGGGGTTTCTTCCATGACCCTGAC

Phenotype

MIM: 608737

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RAB11FIP1 PubMed Links

Gene Details

Gene

RAB11FIP1

Gene Name

RAB11 family interacting protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001002814.2	3859	Missense Mutation	AAT,AGT	N1268S	NP_001002814.2
NM_025151.4	3859	Missense Mutation	AAT,AGT	N634S	NP_079427.4
XM_017013869.1	3859	Intron			XP_016869358.1

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