Product Details

SNP ID

rs8017

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:2771572 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ACACTGGCTCCAGCTTGTGTTTCTG[C/T]TCTTGGCCATCGTCTGGGAGTGGAC

Phenotype

MIM: 606032 MIM: 600787

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SRRM2 PubMed Links

Gene Details

Gene

SRRM2

Gene Name

serine/arginine repetitive matrix 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016333.3	832	Intron			NP_057417.3
XM_005255226.1	832	Intron			XP_005255283.1
XM_006720874.3	832	Intron			XP_006720937.1

Gene

TCEB2

Gene Name

transcription elongation factor B subunit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007108.3	832	UTR 3			NP_009039.1
NM_207013.2	832	Missense Mutation	AAC,AGC	N129S	NP_996896.1

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