Product Details

SNP ID

rs941611

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:50538415 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AAAAGCTGTTTCTGTTAACCTTTAT[C/T]GTCAGAGTGGTTTTAAGGTTTATGT

Phenotype

MIM: 606439 MIM: 604923

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATL1 PubMed Links

Gene Details

Gene

ATL1

Gene Name

atlastin GTPase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127713.1		Intron			NP_001121185.1
NM_015915.4		Intron			NP_056999.2
NM_181598.3		Intron			NP_853629.2

Gene

MAP4K5

Gene Name

mitogen-activated protein kinase kinase kinase kinase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006575.4		Intron			NP_006566.2
NM_198794.2		Intron			NP_942089.1
XM_006720013.3		Intron			XP_006720076.1
XM_011536377.2		Intron			XP_011534679.1
XM_011536378.2		Intron			XP_011534680.1
XM_011536379.2		Intron			XP_011534681.1
XM_011536380.2		Intron			XP_011534682.1

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