Product Details

SNP ID

rs150552930

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:28714689 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCTTGCTGGCAGTTAGGTAGAGG[C/T]TGCTGTCATCACTGTTGATGCCTAA

Phenotype

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

PROCA1

Gene Name

protein interacting with cyclin A1

There are no transcripts associated with this gene.

Gene

RAB34

Gene Name

RAB34, member RAS oncogene family

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142624.2	906	Missense Mutation	AAC,AGC	N294S	NP_001136096.2
NM_001142625.2	906	Intron			NP_001136097.2
NM_001144942.1	906	Missense Mutation	AAC,AGC	N237S	NP_001138414.1
NM_001144943.1	906	Missense Mutation	AAC,AGC	N302S	NP_001138415.1
NM_001256276.1	906	Missense Mutation	AAC,AGC	N223S	NP_001243205.1
NM_001256277.1	906	Missense Mutation	AAC,AGC	N245S	NP_001243206.1
NM_001256278.1	906	Missense Mutation	AAC,AGC	N245S	NP_001243207.1
NM_031934.5	906	Missense Mutation	AAC,AGC	N245S	NP_114140.4

Gene

RPL23A

Gene Name

ribosomal protein L23a

There are no transcripts associated with this gene.

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

There are no transcripts associated with this gene.

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