Product Details

SNP ID

rs146562217

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:35539573 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTATTGGCTGAGCCAGAGGAACGA[C/T]GCAGCTTCATGGACATGCGGCTTTT

Phenotype

MIM: 614027 MIM: 608884

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

INSM2 PubMed Links

Gene Details

Gene

INSM2

Gene Name

INSM transcriptional repressor 2

There are no transcripts associated with this gene.

Gene

RALGAPA1

Gene Name

Ral GTPase activating protein catalytic alpha subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001283043.1	5880	Intron			NP_001269972.1
NM_001283044.1	5880	Intron			NP_001269973.1
NM_014990.1	5880	Intron			NP_055805.1
NM_194301.2	5880	Intron			NP_919277.2
XM_005267491.3	5880	Intron			XP_005267548.1
XM_005267492.3	5880	Intron			XP_005267549.1
XM_005267493.3	5880	Intron			XP_005267550.1
XM_005267498.4	5880	Missense Mutation	CAT,CGT	H1316R	XP_005267555.1
XM_006720098.2	5880	Intron			XP_006720161.1
XM_006720099.2	5880	Intron			XP_006720162.1
XM_006720100.3	5880	Intron			XP_006720163.1
XM_006720101.2	5880	Intron			XP_006720164.1
XM_006720102.3	5880	Intron			XP_006720165.1
XM_006720103.2	5880	Intron			XP_006720166.1
XM_006720104.3	5880	Intron			XP_006720167.1
XM_011536615.2	5880	Intron			XP_011534917.1
XM_011536616.2	5880	Intron			XP_011534918.1
XM_017021141.1	5880	Intron			XP_016876630.1
XM_017021142.1	5880	Intron			XP_016876631.1
XM_017021143.1	5880	Intron			XP_016876632.1
XM_017021144.1	5880	Intron			XP_016876633.1
XM_017021145.1	5880	Intron			XP_016876634.1
XM_017021146.1	5880	Missense Mutation	CAT,CGT	H1825R	XP_016876635.1
XM_017021147.1	5880	UTR 3			XP_016876636.1

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