Product Details

SNP ID

rs148344758

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:66686094 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCATTCACCACCCGTAGCCACGAG[C/G]TCATCTCTGCCTGTGGATGGAAAGA

Phenotype

MIM: 604985

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

RBM4B PubMed Links

Gene Details

Gene

RBM4B

Gene Name

RNA binding motif protein 4B

There are no transcripts associated with this gene.

Gene

SPTBN2

Gene Name

spectrin beta, non-erythrocytic 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006946.2	7776	Missense Mutation	ACC,AGC	T2317S	NP_008877.1
XM_005274192.4	7776	Missense Mutation	ACC,AGC	T2317S	XP_005274249.1
XM_005274193.3	7776	Missense Mutation	ACC,AGC	T2317S	XP_005274250.1
XM_006718669.3	7776	Missense Mutation	ACC,AGC	T2324S	XP_006718732.1
XM_006718671.3	7776	Missense Mutation	ACC,AGC	T2317S	XP_006718734.1
XM_011545216.2	7776	Intron			XP_011543518.1
XM_011545217.2	7776	Intron			XP_011543519.1
XM_017018174.1	7776	Missense Mutation	ACC,AGC	T2317S	XP_016873663.1
XM_017018175.1	7776	Missense Mutation	ACC,AGC	T2317S	XP_016873664.1
XM_017018176.1	7776	Missense Mutation	ACC,AGC	T2317S	XP_016873665.1
XM_017018177.1	7776	Missense Mutation	ACC,AGC	T2317S	XP_016873666.1
XM_017018178.1	7776	Missense Mutation	ACC,AGC	T2317S	XP_016873667.1

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