Product Details

SNP ID

rs140266474

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48720848 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATGGCGATAATTGGCTGGCAGCT[C/T]CTGCTGCTCAAGATCCCAGAGGAGG

Phenotype

MIM: 610349 MIM: 609623

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MAMSTR PubMed Links

Gene Details

Gene

MAMSTR

Gene Name

MEF2 activating motif and SAP domain containing transcriptional regulator

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130915.1	2865	Intron			NP_001124387.1
NM_001297753.1	2865	Intron			NP_001284682.1
NM_182574.2	2865	Intron			NP_872380.1
XM_011526807.2	2865	Intron			XP_011525109.1
XM_011526808.2	2865	Intron			XP_011525110.1
XM_011526809.2	2865	Intron			XP_011525111.1
XM_017026640.1	2865	Intron			XP_016882129.1
XM_017026641.1	2865	Intron			XP_016882130.1
XM_017026642.1	2865	Intron			XP_016882131.1
XM_017026643.1	2865	Intron			XP_016882132.1
XM_017026644.1	2865	Intron			XP_016882133.1
XM_017026645.1	2865	Intron			XP_016882134.1

Gene

RASIP1

Gene Name

Ras interacting protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017805.2	2865	Missense Mutation	AAG,GAG	K948E	NP_060275.2
XM_011527053.2	2865	Missense Mutation	AAG,GAG	K1059E	XP_011525355.2
XM_011527054.2	2865	Intron			XP_011525356.2
XM_011527055.2	2865	Missense Mutation	AAG,GAG	K961E	XP_011525357.2
XM_017026914.1	2865	Missense Mutation	AAG,GAG	K1049E	XP_016882403.1
XM_017026915.1	2865	Missense Mutation	AAG,GAG	K951E	XP_016882404.1

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