Product Details

SNP ID

rs140994319

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81541315 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGGGAACCGGGTGCTCACCTCGTG[A/G]TTGGCGTGGATCTGGCGGAGGTACT

Phenotype

MIM: 611301 MIM: 607643

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FAAP100 PubMed Links

Gene Details

Gene

FAAP100

Gene Name

Fanconi anemia core complex associated protein 100

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_025161.5	2581	Silent Mutation	AAC,AAT	N836N	NP_079437.5
XM_006722111.2	2581	Silent Mutation	AAC,AAT	N698N	XP_006722174.1
XM_006722112.3	2581	Silent Mutation	AAC,AAT	N685N	XP_006722175.1
XM_017025162.1	2581	Silent Mutation	AAC,AAT	N685N	XP_016880651.1
XM_017025163.1	2581	Silent Mutation	AAC,AAT	N685N	XP_016880652.1

Gene

FSCN2

Gene Name

fascin actin-bundling protein 2, retinal

There are no transcripts associated with this gene.

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