Product Details

SNP ID

rs149300595

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:19380726 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAACTGCTGCGGGGCCTGAAGTAC[A/G]TGCACTCGGCTCAGGTCATCCACCG

Phenotype

MIM: 614144 MIM: 602521 MIM: 600596

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

B9D1 PubMed Links

Gene Details

Gene

B9D1

Gene Name

B9 domain containing 1

There are no transcripts associated with this gene.

Gene

MAPK7

Gene Name

mitogen-activated protein kinase 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002749.3	921	Missense Mutation	ATG,GTG	M173V	NP_002740.2
NM_139032.2	921	Missense Mutation	ATG,GTG	M34V	NP_620601.1
NM_139033.2	921	Missense Mutation	ATG,GTG	M173V	NP_620602.2
NM_139034.2	921	Missense Mutation	ATG,GTG	M173V	NP_620603.2
XM_006721557.3	921	Missense Mutation	ATG,GTG	M179V	XP_006721620.1
XM_006721558.3	921	Missense Mutation	ATG,GTG	M179V	XP_006721621.1
XM_006721559.3	921	Missense Mutation	ATG,GTG	M179V	XP_006721622.1
XM_011523957.2	921	Missense Mutation	ATG,GTG	M34V	XP_011522259.1

Gene

MFAP4

Gene Name

microfibrillar associated protein 4

There are no transcripts associated with this gene.

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