Product Details

SNP ID

rs200019852

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:28724701 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATGGGTGAGGTAGGCCTGAGGGG[C/T]CAGGCGGAAGAGAAAGTACATGACC

Phenotype

MIM: 609799 MIM: 610917 MIM: 602326

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NARR PubMed Links

Gene Details

Gene

NARR

Gene Name

nine-amino acid residue-repeats

There are no transcripts associated with this gene.

Gene

NEK8

Gene Name

NIMA related kinase 8

There are no transcripts associated with this gene.

Gene

RAB34

Gene Name

RAB34, member RAS oncogene family

There are no transcripts associated with this gene.

Gene

RPL23A

Gene Name

ribosomal protein L23a

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000984.5	535	Intron			NP_000975.2

Gene

SNORD42A

Gene Name

small nucleolar RNA, C/D box 42A

There are no transcripts associated with this gene.

Gene

SNORD42B

Gene Name

small nucleolar RNA, C/D box 42B

There are no transcripts associated with this gene.

Gene

SNORD4A

Gene Name

small nucleolar RNA, C/D box 4A

There are no transcripts associated with this gene.

Gene

SNORD4B

Gene Name

small nucleolar RNA, C/D box 4B

There are no transcripts associated with this gene.

Gene

TLCD1

Gene Name

TLC domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001160407.1	535	Missense Mutation	ACC,GCC	T138A	NP_001153879.1
NM_138463.3	535	Missense Mutation	ACC,GCC	T185A	NP_612472.1
XM_006721671.3	535	Missense Mutation	ACC,GCC	T114A	XP_006721734.1
XM_011524278.2	535	Intron			XP_011522580.1

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