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SNP ID

rs200386622

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:74781553 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCTACCACAGGCACTTCCACTTC[A/T]ATTTCCTCTGAGCTGCTATCCACAG

Phenotype

MIM: 615769 MIM: 612497

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

FAM169A PubMed Links

Gene Details

Gene

FAM169A

Gene Name

family with sequence similarity 169 member A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015566.2	2233	Silent Mutation	ATA,ATT	I640I	NP_056381.1
XM_005248480.2	2233	Silent Mutation	ATA,ATT	I640I	XP_005248537.1
XM_011543306.2	2233	Silent Mutation	ATA,ATT	I640I	XP_011541608.1
XM_011543307.2	2233	Silent Mutation	ATA,ATT	I640I	XP_011541609.1
XM_017009332.1	2233	Silent Mutation	ATA,ATT	I616I	XP_016864821.1
XM_017009333.1	2233	Silent Mutation	ATA,ATT	I554I	XP_016864822.1

Gene

NSA2

Gene Name

NSA2, ribosome biogenesis homolog

There are no transcripts associated with this gene.

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